ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
paper
Cited
Public
- Authors
- Green, Robert C; Berg, Jonathan S; Grody, Wayne W; Kalia, Sarah S; Korf, Bruce R; Martin, Christa L; McGuire, Amy L; Nussbaum, Robert L; O'Daniel, Julianne M; Ormond, Kelly E; Rehm, Heidi L; Watson, Michael S; Williams, Marc S; Biesecker, Leslie G; American College of Medical Genetics and Genomics
- Year
- 2013
- Journal
- Genetics in medicine : official journal of the American College of Medical Genetics
- PMID
- 23788249
- DOI
- 10.1038/gim.2013.73
- PMCID
- PMC3727274
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
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| Current Practices in Pharmacogenomics. | Ramsey LB et al. | β | 2023 | β |
| DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features. | Luppino F et al. | β | 2023 | β |
| Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing. | Huang Q et al. | β | 2023 | β |
| Detection of copy number variants associated with late-onset conditions in ~16β200 pregnancies: parameters for disclosure and pregnancy outcome. | Daum H et al. | β | 2023 | β |
| Determining the right "dose" of genetic testing for gamete donors. | Bayefsky MJ et al. | β | 2023 | β |
| Deutsche Gesellschaft fΓΌr Humangenetik e.V. (GfH): 24.10.2023 Stellungnahme der Deutschen Gesellschaft fΓΌr Humangenetik zu Zusatz- und Zufallsbefunden in der genetischen Diagnostik. | β | β | 2023 | β |
| Development of a novel measure of advanced cancer patients' perceived utility of secondary germline findings from tumor genomic profiling. | Hamilton JG et al. | β | 2023 | β |
| Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes. | Ma JG et al. | β | 2023 | β |
| Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk? | May T et al. | β | 2023 | β |
| Elective genetic testing: Genetics professionals' perspectives and practices. | Miura MS et al. | β | 2023 | β |
| Elective genomic testing: Practice resource of the National Society of Genetic Counselors. | Blout Zawatsky CL et al. | β | 2023 | β |
| Ethical Aspects of Prodromal Synucleinopathy Prognostic Counseling. | Stefani A et al. | β | 2023 | β |
| Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories. | Yauy K et al. | β | 2023 | β |
| Exome-First Strategy in Adult Patients With CKD: A Cohort Study. | Doreille A et al. | β | 2023 | β |
| Exome/Genome Sequencing in Undiagnosed Syndromes. | Sullivan JA et al. | β | 2023 | β |
| Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss. | Perry J et al. | β | 2023 | β |
| Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions. | Meyer AP et al. | β | 2023 | β |
| Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Dikilitas O et al. | β | 2023 | β |
| FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands. | Mortensen Γ et al. | β | 2023 | β |
| Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening. | Shum BOV et al. | β | 2023 | β |
| Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study. | Kim Y et al. | β | 2023 | β |
| GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks. | Geiger J et al. | β | 2023 | β |
| Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). | Carter MT et al. | β | 2023 | β |
| Genetic determinants and absence of breast cancer in Xavante Indians in Sangradouro Reserve, Brazil. | Zhou Y et al. | β | 2023 | β |
| Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices. | Thomas CP et al. | β | 2023 | β |
| Genetic heterogeneity of cardiomyopathy and its correlation with patient care. | Kim MJ et al. | β | 2023 | β |
| Genetic testing of sperm donors in China: a survey of current practices. | Huang C et al. | β | 2023 | β |
| Genome screening, reporting, and genetic counseling for healthy populations. | Casalino S et al. | β | 2023 | β |
| Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations. | Kuzbari Z et al. | β | 2023 | β |
| Germline gene fusions across species reveal the chromosomal instability regions and cancer susceptibility. | Zhou BW et al. | β | 2023 | β |
| Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. | Mitchell OD et al. | β | 2023 | β |
| Hereditary orotic aciduria identified by newborn screening. | Staretz-Chacham O et al. | β | 2023 | β |
| Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. | Alvarez-Mora MI et al. | β | 2023 | β |
| Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? | Manero-Azua A et al. | β | 2023 | β |
| Influence of family history on penetrance of hereditary cancers in a population setting. | Jackson L et al. | β | 2023 | β |
| Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling. | Gopinath C et al. | β | 2023 | β |
| Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians. | Uitto J et al. | β | 2023 | β |
| Low adenoma burden in unselected patients with a pathogenic APC variant. | Schwiter R et al. | β | 2023 | β |
| <i>De novo</i> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series. | Tran NT et al. | β | 2023 | β |
| Mutation in the Ξ²-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism. | Ben Jdila M et al. | β | 2023 | β |
| Normative Issues in Next Generation Sequencing Gene Testing. | Kim NK | β | 2023 | β |
| Novel <i>FERMT3</i> and <i>PTPRQ</i> Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss. | Candelaria GTP et al. | β | 2023 | β |
| Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia. | Hui EKY et al. | β | 2023 | β |
| Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer. | FernΓ‘ndez-Castillejo S et al. | β | 2023 | β |
| Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory. | Brunfeldt M et al. | β | 2023 | β |
| Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. | Pereira S et al. | β | 2023 | β |
| Patient Understanding of Tumor Genomic Testing: A Quality Improvement Effort. | Senter L et al. | β | 2023 | β |
| "Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients. | Salina A et al. | β | 2023 | β |
| Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants. | Gold JI et al. | β | 2023 | β |
| Precision medicine in rare diseases: What is next? | Tesi B et al. | β | 2023 | β |
| Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China. | Wang Y et al. | β | 2023 | β |
| Prenatal exome and genome sequencing for fetal structural abnormalities. | Vora NL et al. | β | 2023 | β |
| Prevalence and Features of Incidental Findings in Veterinary Computed Tomography: A Single-Center Six-Years' Experience. | Caspanello T et al. | β | 2023 | β |
| Research Participants' Preferences for Individual Results of Pharmacogenomics Research: A Case of a Ugandan HIV Research Institute. | Nabukenya S et al. | β | 2023 | β |
| Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies. | Nguyen XT et al. | β | 2023 | β |
| Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants. | Ohneda K et al. | β | 2023 | β |
| Return of individual genomic research results within the PRAEGNANT multicenter registry study. | Huebner H et al. | β | 2023 | β |
| Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community. | Best LG et al. | β | 2023 | β |
| Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal. | Wolf SM et al. | β | 2023 | β |
| Secondary findings in a large Pakistani cohort tested with whole genome sequencing. | Skrahin A et al. | β | 2023 | β |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. | Pagnamenta AT et al. | β | 2023 | β |
| Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist. | Li X et al. | β | 2023 | β |
| Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centre. | Westphal DS et al. | β | 2023 | β |
| Ten Years of Incidental, Secondary, and Actionable Findings. | Plon S et al. | β | 2023 | β |
| The Singapore National Precision Medicine Strategy. | Wong E et al. | β | 2023 | β |
| Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol. | Bouffler SE et al. | β | 2023 | β |
| Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay. | Cornelis C et al. | β | 2023 | β |
| What's in a name? Justifying terminology for genomic findings beyond the initial test indication: AΒ scopingΒ review. | White S et al. | β | 2023 | β |
| When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective. | Parisi MA et al. | β | 2023 | β |
| Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer. | Hunter CL et al. | β | 2023 | β |
| A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting. | Kim NK et al. | β | 2022 | β |
| ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). | Miller DT et al. | β | 2022 | β |
| A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings. | Sam J et al. | β | 2022 | β |
| Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes. | Chetruengchai W et al. | β | 2022 | β |
| A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? | Vears D et al. | β | 2022 | β |
| Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. | Elfatih A et al. | β | 2022 | β |
| An Examination of the Ethical and Legal Limits in Implementing "Traceback Testing" for Deceased Patients. | Martucci J et al. | β | 2022 | β |
| A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. | Adadey SM et al. | β | 2022 | β |
| Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. | Baxi EG et al. | β | 2022 | β |
| Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. | Glazer AM et al. | β | 2022 | β |
| Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. | Patel AP et al. | β | 2022 | β |
| Attitudes on pharmacogenomic results as secondary findings among medical geneticists. | Bartos MN et al. | β | 2022 | β |
| Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort. | Tomar S et al. | β | 2022 | β |
| ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. | Hunter JE et al. | β | 2022 | β |
| Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies. | Chen X et al. | β | 2022 | β |
| Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). | Li MM et al. | β | 2022 | β |
| Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants. | Martone S et al. | β | 2022 | β |
| Clinical exome sequencing for inherited retinal degenerations at a tertiary care center. | Ganapathi M et al. | β | 2022 | β |
| Clinical whole-exome sequencing analysis reveals a novel missense COL11A1 mutation resulting in an 18-week Iranian male aborted fetus with Fibrochondrogenesis 1: AΒ case report. | Mirtavoos-Mahyari H et al. | β | 2022 | β |
| Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy. | Longstaff H et al. | β | 2022 | β |
| Correspondence on "Exploring the motivations of research participants who chose not to learn medically actionable secondary findings about themselves" by Schupmann etΒ al. | Clayton EW et al. | β | 2022 | β |
| Current practice in diagnostic genetic testing of the epilepsies | Krey I et al. | β | 2022 | β |
| Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes. | Yang Q et al. | β | 2022 | β |
| Development of a targeted gene panel for the diagnosis of Gorlin syndrome. | Nakamura Y et al. | β | 2022 | β |
| Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation. | Lezzi M et al. | β | 2022 | β |
| Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. | Lippa N et al. | β | 2022 | β |
| Do research participants share genomic screening results with family members? | Wynn J et al. | β | 2022 | β |
| Enjeux associΓ©s au risque hΓ©rΓ©ditaire de cancer: connaissances, attitudes et pratiques infirmiΓ¨res en oncologie. | HΓ©bert J et al. | β | 2022 | β |
| Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. | BeltrΓ‘n-Corbellini Γ et al. | β | 2022 | β |
| Establishing the Medical Actionability of Genomic Variants. | Goddard KAB et al. | β | 2022 | β |
| Ethical implications of epigenetics in the era of personalized medicine. | SantalΓ³ J et al. | β | 2022 | β |
| Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU. | Senaratne TN et al. | β | 2022 | β |
| Evaluation of vicinity-based hidden Markov models for genotype imputation. | Wang S et al. | β | 2022 | β |
| Experiences in Routine Genetic Analysis of Hereditary Hemorrhagic, Thrombotic, and Platelet Disorders. | Pezeshkpoor B et al. | β | 2022 | β |
| Experiences of adolescents and their parents after receiving adolescents' genomic screening results. | Lillie N et al. | β | 2022 | β |
| Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification. | Mirshahi UL et al. | β | 2022 | β |
| Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system. | RodrΓguez-Salgado LE et al. | β | 2022 | β |
| Genetic risk factors have a substantial impact on healthy life years. | Jukarainen S et al. | β | 2022 | β |
| Genetics-first approach improves diagnostics of ESKD patients <50 years old. | Snoek R et al. | β | 2022 | β |
| Genomic testing in premature ovarian insufficiency: proceed with caution. | Tucker EJ et al. | β | 2022 | β |
| Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive Phenotype. | Napolitano F et al. | β | 2022 | β |
| Germline mutations in high penetrance genes are associated with worse clinical outcomes in patients with non-small cell lung cancer. | Krantz SB et al. | β | 2022 | β |
| Heath policy guiding the identification, analysis and management of secondary findings for individuals undergoing genomic sequencing: a systematic review protocol. | Majeed S et al. | β | 2022 | β |
| How Genetics and Genomics Advances Are Rewriting Pediatric Cancer Research and Clinical Care. | Cipri S et al. | β | 2022 | β |
| Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population. | Cong PK et al. | β | 2022 | β |
| Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. | Madden JA et al. | β | 2022 | β |
| Incidental Findings in Study Participants: What Is the Researcher's Obligation? | Schaare D et al. | β | 2022 | β |
| Insights into National Laboratory Newborn Screening and Future Prospects. | Mujamammi AH | β | 2022 | β |
| Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. | Arbustini E et al. | β | 2022 | β |
| Issues associated with a hereditary risk of cancer: Knowledge, attitudes and practices of nurses in oncology settings. | HΓ©bert J et al. | β | 2022 | β |
| Laboratory and Clinical Implications of Incidental and Secondary Germline Findings During Tumor Testing. | Cushman-Vokoun A et al. | β | 2022 | β |
| LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis. | Farncombe KM et al. | β | 2022 | β |
| Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? | Murrell JR et al. | β | 2022 | β |
| Newborn screening for genetic disorders: Current status and prospects for the future. | Ding S et al. | β | 2022 | β |
| New mechanistic insights to PLOD1-mediated human vascular disease. | Koenig SN et al. | β | 2022 | β |
| Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia. | Bhangu JS et al. | β | 2022 | β |
| Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. | Fischer J et al. | β | 2022 | β |
| Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. | Vecten M et al. | β | 2022 | β |
| Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. | Blumling AA et al. | β | 2022 | β |
| Paediatric biobanking for health: The ethical, legal, and societal landscape. | Casati S et al. | β | 2022 | β |
| Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study. | O'Shea R et al. | β | 2022 | β |
| Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. | Sherafati A et al. | β | 2022 | β |
| Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. | Molina-RamΓrez LP et al. | β | 2022 | β |
| Perspectives and experiences of researchers regarding feedback of incidental genomic research findings: A qualitative study. | Ochieng J et al. | β | 2022 | β |
| Pharmacogenomics implementation and multidisciplinary genomics collaboration: Real-world experience from Geisinger. | Uber R et al. | β | 2022 | β |
| Polymorphisms in alpha 7 nicotinic acetylcholine receptor gene, CHRNA7, and its partially duplicated gene, CHRFAM7A, associate with increased inflammatory response in human peripheral mononuclear cells. | Pattanaik B et al. | β | 2022 | β |
| Population-Based Penetrance of Deleterious Clinical Variants. | Forrest IS et al. | β | 2022 | β |
| Population genomic screening: Ethical considerations to guide age at implementation. | Spencer SJ et al. | β | 2022 | β |
| Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy. | Libman V et al. | β | 2022 | β |
| Precision medicine via the integration of phenotype-genotype information in neonatal genome project. | Dong X et al. | β | 2022 | β |
| Preference for secondary findings in prenatal and pediatric exome sequencing. | Swanson K et al. | β | 2022 | β |
| Prevalence of pathogenic germline variants in the circulating tumor DNA testing. | Yamamoto Y et al. | β | 2022 | β |
| Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. | Feng YA et al. | β | 2022 | β |
| Psychological predictors of cancer patients' and their relatives' attitudes towards the return of genomic sequencing results. | Meiser B et al. | β | 2022 | β |
| Public Attitude towards Biobanking: An Italian University Survey. | Aleni C et al. | β | 2022 | β |
| Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients. | Hutchcraft ML et al. | β | 2022 | β |
| Reducing severe cutaneous adverse and type B adverse drug reactions using pre-stored human leukocyte antigen genotypes. | Lee KH et al. | β | 2022 | β |
| Reevaluating the "right not to know" in genomics research. | Gold NB et al. | β | 2022 | β |
| Response to McGurk etΒ al. | Gollob MH et al. | β | 2022 | β |
| Returning Individual Research Results to Vulnerable Individuals. | Kolarcik CL et al. | β | 2022 | β |
| Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. | Bowling KM et al. | β | 2022 | β |
| Secondary findings in a large Pakistani cohort tested with whole genome sequencing | Skrahin A et al. | β | 2022 | β |
| SecondaryΒ genomic findings in the 2020 China Neonatal Genomes Project participants. | Xiao H et al. | β | 2022 | β |
| Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. | Kurzlechner LM et al. | β | 2022 | β |
| The 90 plus: longevity and COVID-19 survival. | Zatz M et al. | β | 2022 | β |
| The Evolution of a Large Biobank at Mass General Brigham. | Boutin NT et al. | β | 2022 | β |
| The Evolving Paradigm of Germline Testing in Pancreatic Ductal Adenocarcinoma and Implications for Clinical Practice. | Mohindroo C et al. | β | 2022 | β |
| The HUNT study: A population-based cohort for genetic research. | Brumpton BM et al. | β | 2022 | β |
| The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives. | Schmidlen TJ et al. | β | 2022 | β |
| The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing. | Cheung F et al. | β | 2022 | β |
| The passivists: Managing risk through institutionalized ignorance in genomic medicine. | Owens K | β | 2022 | β |
| The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. | Kawame H et al. | β | 2022 | β |
| Towards accurate and reliable resolution of structural variants for clinical diagnosis. | Liu Z et al. | β | 2022 | β |
| Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative. | Baker A et al. | β | 2022 | β |
| Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. | Johnston JJ et al. | β | 2022 | β |
| When Not to Ask: A Defense of Choice-Masking Nudges in Medical Research. | McGrew S et al. | β | 2022 | β |
| Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. | Narita K et al. | β | 2022 | β |
| Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy. | Zavarzadeh PG et al. | β | 2022 | β |
| Whole exome sequencing studies in epilepsy: A deep analysis of the published literature. | Shukralla A et al. | β | 2022 | β |
| ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants. | Dehnavi AZ et al. | β | 2021 | β |
| Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling. | Abicht A et al. | β | 2021 | β |
| A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee. | Rosenbaum JN et al. | β | 2021 | β |
| A decision aid for additional findings in genomic sequencing: Development and pilot testing. | Freed AS et al. | β | 2021 | β |
| Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified <i>TTN</i>-Encoded Titin Truncating Variants. | Connell PS et al. | β | 2021 | β |
| Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma. | Sarkadi B et al. | β | 2021 | β |
| An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. | NeuroLINCS Consortium et al. | β | 2021 | β |
| An international policy on returning genomic research results. | Lewis ACF et al. | β | 2021 | β |
| Application of a framework to guide genetic testing communication across clinical indications. | Hallquist MLG et al. | β | 2021 | β |
| A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings. | Saelaert M et al. | β | 2021 | β |
| A qualitative study exploring caregivers' experiences, perspectives, and expectations for precision medicine in epilepsy in South Africa. | Muchada IF et al. | β | 2021 | β |
| Ask me later: deciding to have clinical exome trio sequencing for my critically ill child. | Robinson JO | β | 2021 | β |
| Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. | Rosenthal EA et al. | β | 2021 | β |
| A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways. | Matsui K et al. | β | 2021 | β |
| A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings. | Sapp JC et al. | β | 2021 | β |
| Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics. | Rosier M et al. | β | 2021 | β |
| Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients. | Christensen KD et al. | β | 2021 | β |
| Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance. | AkyΓΌz K et al. | β | 2021 | β |
| Biobanks and Individual Health Related Findings: from an Obstacle to an Incentive. | Lekstutiene J et al. | β | 2021 | β |
| Biorepositories and Databanks for the Development of Novel Biomarkers for Genitourinary Cancer Prevention and Management. | Wagner H et al. | β | 2021 | β |
| Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. | Rini C et al. | β | 2021 | β |
| Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations. | Hirsch S et al. | β | 2021 | β |
| Catenin Ξ± 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/Ξ²-catenin signaling. | Zhu X et al. | β | 2021 | β |
| Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting. | Anderson JL et al. | β | 2021 | β |
| Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events. | Shah SN et al. | β | 2021 | β |
| Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. | Fayer S et al. | β | 2021 | β |
| Comparison of family health history in surveys vs electronic health record data mapped to the observational medical outcomes partnership data model in the All of Us Research Program. | Cronin RM et al. | β | 2021 | β |
| Comprehension and personal value of negative non-diagnostic genetic panel testing. | Hoell C et al. | β | 2021 | β |
| Design of a study to implement population-based risk assessment for hereditary cancer genetic testing in primary care. | Bowen DJ et al. | β | 2021 | β |
| Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Goodrich JK et al. | β | 2021 | β |
| Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care. | Crawford SA et al. | β | 2021 | β |
| Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants. | Beil A et al. | β | 2021 | β |
| Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. | Horiuchi Y et al. | β | 2021 | β |
| Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series. | Peltekova I et al. | β | 2021 | β |
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| Parental attitudes and expectations towards receiving genomic test results in healthy children. | Kulchak Rahm A et al. | β | 2018 | β |
| Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care. | Hicks JK et al. | β | 2018 | β |
| Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks. | Brunfeldt M et al. | β | 2018 | β |
| Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease. | Stuttgen KM et al. | β | 2018 | β |
| Points to consider for laboratories reporting results from diagnostic genomic sequencing. | Vears DF et al. | β | 2018 | β |
| Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants. | Wolf SM et al. | β | 2018 | β |
| Precision medicine in hearing loss. | Rudman JR et al. | β | 2018 | β |
| Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. | Punj S et al. | β | 2018 | β |
| Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases. | Peyron C et al. | β | 2018 | β |
| Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors. | Kaphingst KA et al. | β | 2018 | β |
| Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. | Abou Tayoun AN et al. | β | 2018 | β |
| Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. | Kim J et al. | β | 2018 | β |
| Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014. | Tingsgaard JK et al. | β | 2018 | β |
| Principles of Genetic Counseling in the Era of Next-Generation Sequencing. | Yang M et al. | β | 2018 | β |
| Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. | Drazer MW et al. | β | 2018 | β |
| Promises, pitfalls and practicalities of prenatal whole exome sequencing. | Best S et al. | β | 2018 | β |
| p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. | Loveday C et al. | β | 2018 | β |
| Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening? | Laberge AM | β | 2018 | β |
| Reconceptualizing harms and benefits in the genomic age. | Prince AER et al. | β | 2018 | β |
| Reconsidering the duty to warn genetically at-risk relatives. | Rothstein MA | β | 2018 | β |
| Reporting of Clinical Genome Sequencing Results. | Song C et al. | β | 2018 | β |
| Response to Mammalian Target of Rapamycin-Based Therapy and Incidental Finding of Lynch Syndrome in a Patient With Solid Pseudopapillary Neoplasm of the Pancreas With <i>AKT1_E17K</i> Mutation. | Cuglievan B et al. | β | 2018 | β |
| Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings. | Boardman F et al. | β | 2018 | β |
| Return of individual results in epilepsy genomic research: A view from the field. | Ottman R et al. | β | 2018 | β |
| Secondary findings in 421 whole exome-sequenced Chinese children. | Chen W et al. | β | 2018 | β |
| Seeing Beyond the Margins: Challenges to Informed Inclusion of Vulnerable Populations in Research. | Gehlert S et al. | β | 2018 | β |
| Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. | Johnston J et al. | β | 2018 | β |
| Shared decision making: Implications for return of results from whole-exome and whole-genome sequencing. | Vadaparampil ST et al. | β | 2018 | β |
| Strategies to Guide the Return of Genomic Research Findings: An Australian Perspective. | Eckstein L et al. | β | 2018 | β |
| Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting. | Schoeman EM et al. | β | 2018 | β |
| Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. | Shefer Averbuch N et al. | β | 2018 | β |
| Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. | Paulo P et al. | β | 2018 | β |
| Tensions in ethics and policy created by National Precision Medicine Programs. | Minari J et al. | β | 2018 | β |
| The emerging clinical relevance of genomics in cancer medicine. | Berger MF et al. | β | 2018 | β |
| The emerging significance of secondary germline testing in cancer genomics. | Mandelker D et al. | β | 2018 | β |
| The Ethics of General Population Preventive Genomic Sequencing: Rights and Social Justice. | Morrissey C et al. | β | 2018 | β |
| The impact of pharmacokinetic gene profiles across human cancers. | Zimmermann MT et al. | β | 2018 | β |
| The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition. | Schultz CL et al. | β | 2018 | β |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. | Reuter MS et al. | β | 2018 | β |
| The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene. | Macklin S et al. | β | 2018 | β |
| The Right to Know: A Revised Standard for Reporting Incidental Findings. | Schaefer GO et al. | β | 2018 | β |
| The social utility of clinical exome sequencing. | Timmermans S et al. | β | 2018 | β |
| The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study. | Rini C et al. | β | 2018 | β |
| Toward greater understanding of patient decision-making around genome sequencing. | Hull LE et al. | β | 2018 | β |
| Towards precision nephrology: the opportunities and challenges of genomic medicine. | Nestor JG et al. | β | 2018 | β |
| Translating to the Community (T2C): a protocol paper describing the development of Canada's first social epigenetic FASD biobank. | Elias B et al. | β | 2018 | β |
| Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories. | Ackerman SL et al. | β | 2018 | β |
| Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. | Yehia L et al. | β | 2018 | β |
| Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. | Romasko EJ et al. | β | 2018 | β |
| Value of a molecular screening program to support clinical trial enrollment in Asian cancer patients: The Integrated Molecular Analysis of Cancer (IMAC) Study. | Heong V et al. | β | 2018 | β |
| Variation among Consent Forms for Clinical Whole Exome Sequencing. | Fowler SA et al. | β | 2018 | β |
| Views of rare disease participants in aΒ UK whole-genome sequencing study towards secondary findings: a qualitative study. | Mackley MP et al. | β | 2018 | β |
| What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies. | Scherr CL et al. | β | 2018 | β |
| Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study. | PlΓΆthner M et al. | β | 2018 | β |
| Whole Exome Sequencing: Applications in Prenatal Genetics. | Jelin AC et al. | β | 2018 | β |
| Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. | Fu F et al. | β | 2018 | β |
| Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. | van der Ven AT et al. | β | 2018 | β |
| Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause. | Yang CA et al. | β | 2018 | β |
| Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations. | Oberg JA et al. | β | 2018 | β |
| Yield of the <i>RYR2</i> Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. | Kapplinger JD et al. | β | 2018 | β |
| A closer look at expanded carrier screening from a PGD perspective. | Vaz-de-Macedo C et al. | β | 2017 | β |
| ACMG secondary findings 2.0. | Biesecker LG | β | 2017 | β |
| A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. | Cirino AL et al. | β | 2017 | β |
| Active Disclosure of Secondary Germline Findings to Deceased Research Participants' Personal Representatives: Process and Outcomes. | Daniels M et al. | β | 2017 | β |
| A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. | Tsiplova K et al. | β | 2017 | β |
| Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations. | de Wit MC et al. | β | 2017 | β |
| Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis. | Worthey EA | β | 2017 | β |
| An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. | Guo T et al. | β | 2017 | β |
| A Path to Implement Precision Child Health Cardiovascular Medicine. | Touma M et al. | β | 2017 | β |
| Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions. | Messner DA et al. | β | 2017 | β |
| Blood-brain barrier-adapted precision medicine therapy for pediatric brain tumors. | Marini BL et al. | β | 2017 | β |
| CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. | Pal LR et al. | β | 2017 | β |
| Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA. | Advani HV et al. | β | 2017 | β |
| Clinical exome sequencing reports: current informatics practice and future opportunities. | Swaminathan R et al. | β | 2017 | β |
| Clinical genome sequencing and population preferences for information about 'incidental' findings-From medically actionable genes (MAGs) to patient actionable genes (PAGs). | Ploug T et al. | β | 2017 | β |
| Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors. | Kou T et al. | β | 2017 | β |
| Collaborative Counseling Considerations for Pharmacogenomic Tests. | Zierhut HA et al. | β | 2017 | β |
| Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. | Cheng DT et al. | β | 2017 | β |
| Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings. | Cook L et al. | β | 2017 | β |
| Considering the Benefits and Risks of Research Participants' Access to Sequence Data. | Haga SB et al. | β | 2017 | β |
| Critical points for an accurate human genome analysis. | White SJ et al. | β | 2017 | β |
| Data resources for the identification and interpretation of actionable mutations by clinicians. | Prawira A et al. | β | 2017 | β |
| Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing. | Romero-Hidalgo S et al. | β | 2017 | β |
| Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease. | Hegde M et al. | β | 2017 | β |
| Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. | Haggerty CM et al. | β | 2017 | β |
| Ethical considerations in genomic testing for hematologic disorders. | Marron JM et al. | β | 2017 | β |
| Ethical considerations surrounding germline next-generation sequencing of children with cancer. | Johnson LM et al. | β | 2017 | β |
| Ethics and Genetics: Examining a Crossroads in Nursing Through a Case Studyβ©. | Beamer LC | β | 2017 | β |
| Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. | Harris E et al. | β | 2017 | β |
| Exomic variants of an elderly cohort of Brazilians in the ABraOM database. | Naslavsky MS et al. | β | 2017 | β |
| Expect the unexpected: screening for secondary findings in clinical genomics research. | Mackley MP et al. | β | 2017 | β |
| Findings of a 1303 Korean whole-exome sequencing study. | Kwak SH et al. | β | 2017 | β |
| Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies. | Chakravorty S et al. | β | 2017 | β |
| Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient. | Druker H et al. | β | 2017 | β |
| Genetics in an isolated population like Finland: a different basis for genomic medicine? | KÀÀriΓ€inen H et al. | β | 2017 | β |
| Genetic Testing in Pediatric Epilepsy. | Sands TT et al. | β | 2017 | β |
| Genomic decision support needs in pediatric primary care. | Pennington JW et al. | β | 2017 | β |
| Genomic diagnosis for children with intellectual disability and/or developmental delay. | Bowling KM et al. | β | 2017 | β |
| Germline <i>BRCA2</i> mutations detected in pediatric sequencing studies impact parents' evaluation and care. | Walsh MF et al. | β | 2017 | β |
| Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. | Chan SH et al. | β | 2017 | β |
| How Sensitive Is Genetic Data? | Sariyar M et al. | β | 2017 | β |
| [Incidental findings : Evaluation, management recommendations and legal considerations]. | Mildenberger P | β | 2017 | β |
| Informed Consent and the Disclosure of Clinical Results to Research Participants. | Blasimme A et al. | β | 2017 | β |
| Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling. | Hamilton JG et al. | β | 2017 | β |
| Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. | Landstrom AP et al. | β | 2017 | β |
| Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional Abnormality. | Dias A et al. | β | 2017 | β |
| Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases. | Schaafsma GCP et al. | β | 2017 | β |
| Lost in translation: returning germline genetic results in genome-scale cancer research. | Johns AL et al. | β | 2017 | β |
| Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. | Phillips KA et al. | β | 2017 | β |
| Medical Genetics Ethics Case Collection: Discussion Materials for Medical Students in the Genomic Era. | Dasgupta S | β | 2017 | β |
| Molecular diagnostics for hereditary hearing loss in children. | Sommen M et al. | β | 2017 | β |
| Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes. | Stallmeyer B et al. | β | 2017 | β |
| Molecular Screening for Cancer Treatment Optimization (MOSCATO-01) in Pediatric Patients: A Single-Institutional Prospective Molecular Stratification Trial. | Harttrampf AC et al. | β | 2017 | β |
| Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. | Fukami M et al. | β | 2017 | β |
| Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. | Wang Q et al. | β | 2017 | β |
| Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. | Mao X et al. | β | 2017 | β |
| Organoids model distinct Vitamin E effects at different stages of prostate cancer evolution. | Njoroge RN et al. | β | 2017 | β |
| Parental Perspectives on Whole Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility. | Malek J et al. | β | 2017 | β |
| Parents' attitudes toward genetic testing of children for health conditions: A systematic review. | Lim Q et al. | β | 2017 | β |
| Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry. | Starkweather A et al. | β | 2017 | β |
| Population-based biobank participants' preferences for receiving genetic test results. | Yamamoto K et al. | β | 2017 | β |
| Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. | Zahed H et al. | β | 2017 | β |
| Precisely Where Are We Going? Charting the New Terrain of Precision Prevention. | Meagher KM et al. | β | 2017 | β |
| Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. | Marks LJ et al. | β | 2017 | β |
| Precision oncology based on omics data: The NCT Heidelberg experience. | Horak P et al. | β | 2017 | β |
| Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples. | Christensen KD et al. | β | 2017 | β |
| Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. | Vora NL et al. | β | 2017 | β |
| Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice. | Ryan KA et al. | β | 2017 | β |
| Rapid re-identification of human samples using portable DNA sequencing. | Zaaijer S et al. | β | 2017 | β |
| Recent advances in congenital heart disease genomics. | Wilsdon A et al. | β | 2017 | β |
| Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel. | Vears DF et al. | β | 2017 | β |
| Response to Biesecker. | Miller DT et al. | β | 2017 | β |
| Review of Clinical Next-Generation Sequencing. | Yohe S et al. | β | 2017 | β |
| Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research. | Sundby A et al. | β | 2017 | β |
| The Continuing Evolution of Ethical Standards for Genomic Sequencing in Clinical Care: Restoring Patient Choice. | Wolf SM | β | 2017 | β |
| The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. | Stenson PD et al. | β | 2017 | β |
| The impact of rare variation on gene expression across tissues. | Li X et al. | β | 2017 | β |
| The need to develop a patient-centered precision medicine model for adults with chronic disability. | Wolf SM et al. | β | 2017 | β |
| The NextGen Study: patient motivation for participation in genome sequencing for carrier status. | Kauffman TL et al. | β | 2017 | β |
| The price of whole-genome sequencing may be decreasing, but who will be sequenced? | Marshall DA et al. | β | 2017 | β |
| The rise of the genome and personalised medicine. | Brittain HK et al. | β | 2017 | β |
| Third party interpretation of raw genetic data: an ethical exploration. | Badalato L et al. | β | 2017 | β |
| Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer. | Borad MJ et al. | β | 2017 | β |
| Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. | Seaby EG et al. | β | 2017 | β |
| Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. | Meng L et al. | β | 2017 | β |
| Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease. | Newey PJ et al. | β | 2017 | β |
| Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes. | Paulo P et al. | β | 2017 | β |
| Variant Interpretation: Functional Assays to the Rescue. | Starita LM et al. | β | 2017 | β |
| What's New in Prenatal Genetics? A Review of Current Recommendations and Guidelines. | Post AL et al. | β | 2017 | β |
| Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening. | Murdock DR et al. | β | 2017 | β |
| Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. | Lei TY et al. | β | 2017 | β |
| Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. | Yates CL et al. | β | 2017 | β |