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 (48)

Mentioned in (164)

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)
• 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)
• Associations Between Cannabis Use, Polygenic Liability for Schizophrenia, and Cannabis-related Experiences in a Sample of Cannabis Users. (2023)
• Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. (2022)
• Item-Level Genome-Wide Association Study of the Alcohol Use Disorders Identification Test in Three Population-Based Cohorts. (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)
• 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)
• Accucopy: accurate and fast inference of allele-specific copy number alterations from low-coverage low-purity tumor sequencing data. (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)
• 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)
• Data structures based on -mers for querying large collections of sequencing data sets. (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)
• 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)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (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)
• Polygenic prediction via Bayesian regression and continuous shrinkage priors. (2019)
• htsget: a protocol for securely streaming genomic data. (2019)
• Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. (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)
• 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)
• A SNP panel for identification of DNA and RNA specimens. (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)
• 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)
• SvABA: genome-wide detection of structural variants and indels by local assembly. (2018)
• 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)
• Universal Patterns of Selection in Cancer and Somatic Tissues. (2017)
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
• CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. (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)
• 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)
• 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)
• Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (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)
• 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)
• 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)
• RADIA: RNA and DNA integrated analysis for somatic mutation detection. (2014)
• RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. (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)
• PyClone: statistical inference of clonal population structure in cancer. (2014)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (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)
• 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)
• Compression of FASTQ and SAM format sequencing data. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Characterizing and measuring bias in sequence data. (2013)
• Improving bioinformatic pipelines for exome variant calling. (2012)
• cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
• A cross-sample statistical model for SNP detection in short-read sequencing data. (2012)
• DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• Hadoop-BAM: directly manipulating next generation sequencing data in the cloud. (2012)
• 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)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (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)
• 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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