whole exome sequencing drug
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Related entities (3)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| whole exome sequencing | associated_with | autism | — | 1 |
| whole exome sequencing | associated_with | Miller syndrome | — | 1 |
| whole exome sequencing | associated_with | psychiatric disorders | — | 1 |
Mentioned in (40)
Papers in which this entity is mentioned.
- KILDA: identifying KIV-2 repeats from kmers. (2025)
- Tumor-informed deep sequencing of ctDNA detects minimal residual disease and predicts relapse in osteosarcoma. (2024)
- Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
- Inferring gene expression from cell-free DNA fragmentation profiles. (2022)
- Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
- Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. (2021)
- Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. (2021)
- A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
- Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases. (2020)
- De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. (2020)
- Establishing guidelines to harmonize tumor mutational burden (TMB): in silico assessment of variation in TMB quantification across diagnostic platforms: phase I of the Friends of Cancer Research TMB Harmonization Project. (2020)
- Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers. (2019)
- Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions. (2019)
- VCF2CNA: A tool for efficiently detecting copy-number alterations in VCF genotype data and tumor purity. (2019)
- Assessment of tumor mutation burden calculation from gene panel sequencing data. (2019)
- Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project. (2019)
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. (2018)
- Enhanced detection of circulating tumor DNA by fragment size analysis. (2018)
- Tumor fraction in cell-free DNA as a biomarker in prostate cancer. (2018)
- Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
- Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. (2017)
- HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. (2017)
- Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. (2017)
- Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. (2017)
- Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. (2017)
- Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience. (2017)
- Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer. (2016)
- A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease. (2016)
- FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing. (2016)
- Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
- ENVE: a novel computational framework characterizes copy-number mutational landscapes in colorectal cancers from African American patients. (2015)
- The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
- Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. (2015)
- Unraveling the clonal hierarchy of somatic genomic aberrations. (2014)
- VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
- An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. (2014)
- The genomic landscape of hypodiploid acute lymphoblastic leukemia. (2013)
- Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012)
Merged raw entities (3)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| wes | drug | 24 | 46 |
| whole exome sequencing | drug | 22 | 23 |
| whole exome | drug | — | — |