1000 Genomes Project cohort

Aliases

1000 Genomes, 1000 Genomes European, 1000 Genomes European sample, 1000 Genomes Phase 3, 1000 Genomes Phase 3 v5, 1000 Genomes Phase3, 1000 Genomes Project, 1000 Genomes Project Consortium, 1000 Genomes Project Consortium 2010, 1000 Genomes Project phase 3, 1000 Genomes Project pilot 1, 1000 Genomes data, 1000 Genomes data set, 1000 Genomes individuals, 1000 Genomes panel, 1000 Genomes phase 3 reference panels, 1000 Genomes reference, 1000 Genomics Project, 1000 genomes phase1, 1000 genomes phase3, 1000 genomes project, 1000 genomes project pilot, 1000G, 1000G Phase 3, 1000G Phase 3 v5, 1000G reference, 1000GP, 1000Genomes, 1KG, 1KG Project, 1KG phase 3 data, 1KGP, African 1000 Genomes Project phase 3, EUR, EUR reference set, European reference panel, Europeans from the 1000 Genomes, June 2010 release, Phase 3, Phase 3 v5a, Phase 3 version 5, Sanger Institute, The 1000 Genomes Project, The 1000 Genomes Project Consortium, phase 3, phase 3 of the 1000 genomes project

Related entities (109)

Mentioned in (261)

Papers in which this entity is mentioned.

• Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. (2026)
• Mapping the genetic landscape across 14 psychiatric disorders. (2026)
• Specificity, length and luck drive gene rankings in association studies. (2026)
• The Impact of Polygenic Risk, Parental Separation, and Parental Relationship Discord on Heavy Episodic Drinking Across Adolescence and Young Adulthood in a High-Risk Sample. (2025)
• Annotating the genome at single-nucleotide resolution with DNA foundation models. (2025)
• MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
• Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers. (2025)
• Integrated single-cell multiomic profiling of caudate nucleus suggests key mechanisms in alcohol use disorder. (2025)
• Robust and accurate Bayesian inference of genome-wide genealogies for hundreds of genomes. (2025)
• Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders. (2025)
• ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
• Integrated single-cell multiomic profiling of caudate nucleus suggests key mechanisms in alcohol use disorder. (2025)
• Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• KILDA: identifying KIV-2 repeats from kmers. (2025)
• Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. (2025)
• Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (2024)
• BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability. (2024)
• MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups. (2024)
• Alcohol Use Disorder Polygenic Score Compared With Family History and ADH1B. (2024)
• BioPipeline Creator-a user-friendly Java-based GUI for managing and customizing biological data pipelines. (2024)
• Global impact of unproductive splicing on human gene expression. (2024)
• BioPipeline Creator-a user-friendly Java-based GUI for managing and customizing biological data pipelines. (2024)
• The Polygenic Score Catalog: new functionality and tools to enable FAIR research. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• Integrated Single-Cell Multiomic Profiling of Caudate Nucleus Suggests Key Mechanisms in Alcohol Use Disorder. (2024)
• Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. (2024)
• Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
• Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases. (2024)
• Effect of schizophrenia common variants on infant brain volumes: cross-sectional study in 207 term neonates in developing Human Connectome Project. (2023)
• Biobank-scale methods and projections for sparse polygenic prediction from machine learning. (2023)
• Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets. (2023)
• Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics. (2023)
• Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers. (2023)
• Polygenic scoring accuracy varies across the genetic ancestry continuum. (2023)
• Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses. (2023)
• Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. (2023)
• Associations Between Cannabis Use, Polygenic Liability for Schizophrenia, and Cannabis-related Experiences in a Sample of Cannabis Users. (2023)
• Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology. (2023)
• Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. (2022)
• Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. (2022)
• The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum. (2022)
• Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. (2022)
• Item-Level Genome-Wide Association Study of the Alcohol Use Disorders Identification Test in Three Population-Based Cohorts. (2022)
• A saturated map of common genetic variants associated with human height. (2022)
• Research Review: A guide to computing and implementing polygenic scores in developmental research. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• The complete sequence of a human genome. (2022)
• AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos. (2022)
• Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. (2022)
• Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated. (2022)
• Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. (2022)
• Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans. (2022)
• Inferring population structure in biobank-scale genomic data. (2022)
• Genetic variants associated with longitudinal changes in brain structure across the lifespan. (2022)
• Genome-wide admixture mapping of DSM-IV alcohol dependence, criterion count, and the self-rating of the effects of ethanol in African American populations. (2021)
• Using a developmental perspective to examine the moderating effects of marriage on heavy episodic drinking in a young adult sample enriched for risk. (2021)
• Polygenic risk scores for alcohol involvement relate to brain structure in substance-naïve children: Results from the ABCD study. (2021)
• Accucopy: accurate and fast inference of allele-specific copy number alterations from low-coverage low-purity tumor sequencing data. (2021)
• Placental genomic risk scores and early neurodevelopmental outcomes. (2021)
• A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. (2021)
• Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease. (2021)
• Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. (2021)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
• Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. (2021)
• Genetic scores for adult subcortical volumes associate with subcortical volumes during infancy and childhood. (2021)
• Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. (2021)
• Data structures based on -mers for querying large collections of sequencing data sets. (2021)
• Inflammatory modulation of the associations between prenatal maternal depression and neonatal brain. (2021)
• Genetic association study of childhood aggression across raters, instruments, and age. (2021)
• Rapid genotype imputation from sequence with reference panels. (2021)
• The Data Use Ontology to streamline responsible access to human biomedical datasets. (2021)
• Genotypes of informative loci from 1000 Genomes data allude evolution and mixing of human populations. (2021)
• Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. (2021)
• The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences. (2021)
• Genome-wide association analysis of opioid use disorder: A novel approach using clinical data. (2020)
• Structural variation in the sequencing era. (2020)
• Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Pan-cancer analysis of whole genomes. (2020)
• Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. (2020)
• Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease. (2020)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
• ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries. (2020)
• Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
• Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies. (2020)
• Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Data structures based on <i>k</i> -mers for querying large collections of sequencing datasets (2019)
• Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
• Polygenic prediction via Bayesian regression and continuous shrinkage priors. (2019)
• Sex differences in the genetic architecture of obsessive-compulsive disorder. (2019)
• Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. (2019)
• htsget: a protocol for securely streaming genomic data. (2019)
• Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits. (2019)
• The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
• Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. (2019)
• Polygenic risk for alcohol misuse is moderated by romantic partnerships. (2019)
• A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
• HLA*LA-HLA typing from linearly projected graph alignments. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Identification of common genetic risk variants for autism spectrum disorder. (2019)
• Psychosocial moderation of polygenic risk for cannabis involvement: the role of trauma exposure and frequency of religious service attendance. (2019)
• Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria. (2019)
• Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. (2019)
• Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. (2018)
• Accurity: accurate tumor purity and ploidy inference from tumor-normal WGS data by jointly modelling somatic copy number alterations and heterozygous germline single-nucleotide-variants. (2018)
• Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (2018)
• A SNP panel for identification of DNA and RNA specimens. (2018)
• Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. (2018)
• Genome-wide association study identifies a novel locus for cannabis dependence. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• Immune diversity sheds light on missing variation in worldwide genetic diversity panels. (2018)
• Meta-Analysis of Genetic Influences on Initial Alcohol Sensitivity. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
• Critical Issues in the Inclusion of Genetic and Epigenetic Information in Prevention and Intervention Trials. (2018)
• Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. (2018)
• Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
• Nanopore sequencing and assembly of a human genome with ultra-long reads. (2018)
• Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
• Incorporating Functional Genomic Information to Enhance Polygenic Signal and Identify Variants Involved in Gene-by-Environment Interaction for Young Adult Alcohol Problems. (2018)
• Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
• SvABA: genome-wide detection of structural variants and indels by local assembly. (2018)
• Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
• Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (2017)
• GAVIN: Gene-Aware Variant INterpretation for medical sequencing. (2017)
• CRAVAT 4: Cancer-Related Analysis of Variants Toolkit. (2017)
• Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. (2017)
• Genetic studies of alcohol dependence in the context of the addiction cycle. (2017)
• Universal Patterns of Selection in Cancer and Somatic Tissues. (2017)
• Ensembl 2017. (2017)
• Genetic effects on gene expression across human tissues. (2017)
• Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. (2017)
• Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. (2017)
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
• Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
• CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. (2017)
• Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. (2017)
• Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy. (2017)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117). (2017)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• ReMixT: clone-specific genomic structure estimation in cancer. (2017)
• PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
• The impact of structural variation on human gene expression. (2017)
• LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• The real cost of sequencing: scaling computation to keep pace with data generation. (2016)
• Statistical modeling for sensitive detection of low-frequency single nucleotide variants. (2016)
• KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. (2016)
• Reference-based phasing using the Haplotype Reference Consortium panel. (2016)
• Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors. (2016)
• High-Accuracy HLA Type Inference from Whole-Genome Sequencing Data Using Population Reference Graphs. (2016)
• Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. (2016)
• Epigenomic profiling of preterm infants reveals DNA methylation differences at sites associated with neural function. (2016)
• Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). (2016)
• Next-generation genotype imputation service and methods. (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
• Fast and accurate long-range phasing in a UK Biobank cohort. (2016)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• Extending reference assembly models. (2015)
• Recurrent somatic mutations in regulatory regions of human cancer genomes. (2015)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• An introductory review of parallel independent component analysis (p-ICA) and a guide to applying p-ICA to genetic data and imaging phenotypes to identify disease-associated biological pathways and systems in common complex disorders. (2015)
• A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism. (2015)
• The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
• A global reference for human genetic variation. (2015)
• Candidate gene-environment interaction research: reflections and recommendations. (2015)
• Experiences with workflows for automating data-intensive bioinformatics. (2015)
• HLAreporter: a tool for HLA typing from next generation sequencing data. (2015)
• Germline Mutations in Predisposition Genes in Pediatric Cancer. (2015)
• SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations. (2015)
• A global reference for human genetic variation. (2015)
• Second-generation PLINK: rising to the challenge of larger and richer datasets. (2015)
• Genome-wide association study of nicotine dependence in American populations: identification of novel risk loci in both African-Americans and European-Americans. (2015)
• Genetic linkage analysis in the age of whole-genome sequencing. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks. (2014)
• An atlas of active enhancers across human cell types and tissues. (2014)
• RADIA: RNA and DNA integrated analysis for somatic mutation detection. (2014)
• RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. (2014)
• 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (2014)
• Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. (2014)
• Estimating telomere length from whole genome sequence data. (2014)
• Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
• VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
• Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
• OptiType: precision HLA typing from next-generation sequencing data. (2014)
• Heritability and genomics of gene expression in peripheral blood. (2014)
• Heritability and molecular-genetic basis of resting EEG activity: a genome-wide association study. (2014)
• Genetic variability in the regulation of gene expression in ten regions of the human brain. (2014)
• In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. (2014)
• Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways. (2014)
• Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
• A general approach for haplotype phasing across the full spectrum of relatedness. (2014)
• PyClone: statistical inference of clonal population structure in cancer. (2014)
• Candidate gene association studies: a comprehensive guide to useful in silico tools. (2013)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
• A mega-analysis of genome-wide association studies for major depressive disorder. (2013)
• A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. (2013)
• Signatures of mutational processes in human cancer. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (2013)
• DNA methylation contributes to natural human variation. (2013)
• HLA typing from 1000 genomes whole genome and whole exome illumina data. (2013)
• Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
• A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• Compression of FASTQ and SAM format sequencing data. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Central precocious puberty caused by mutations in the imprinted gene MKRN3. (2013)
• Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. (2013)
• Characterizing and measuring bias in sequence data. (2013)
• Population-specificity of human DNA methylation. (2012)
• Improving bioinformatic pipelines for exome variant calling. (2012)
• Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012)
• cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
• An integrated map of genetic variation from 1,092 human genomes. (2012)
• A cross-sample statistical model for SNP detection in short-read sequencing data. (2012)
• CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
• Annotation of functional variation in personal genomes using RegulomeDB. (2012)
• GENCODE: the reference human genome annotation for The ENCODE Project. (2012)
• DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
• Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. (2012)
• Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (2012)
• Fast gapped-read alignment with Bowtie 2. (2012)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• Hadoop-BAM: directly manipulating next generation sequencing data in the cloud. (2012)
• A comparison of approaches to account for uncertainty in analysis of imputed genotypes. (2011)
• Epilepsy genetics--past, present, and future. (2011)
• CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. (2011)
• Linkage analysis merging replicate phenotypes: an application to three quantitative phenotypes in two African samples. (2011)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• LocusZoom: regional visualization of genome-wide association scan results. (2010)
• Genetics of psychiatric disorders methods: molecular approaches. (2010)
• Statistical analysis strategies for association studies involving rare variants. (2010)
• LocusZoom: regional visualization of genome-wide association scan results. (2010)
• Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (2010)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. (2010)
• Genome-wide association studies in diverse populations. (2010)
• The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (2010)
• Gene--environment-wide association studies: emerging approaches. (2010)
• Tackling the widespread and critical impact of batch effects in high-throughput data. (2010)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Finding the missing heritability of complex diseases. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
• Genomewide association studies and human disease. (2009)
• The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
• Marker selection for genetic case-control association studies. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

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