variant cohort

Aliases

SNPs, directly-typed variant, genetic variant, genetic variants, imputed variant, n, variant, variants

Related entities (2)

Mentioned in (71)

Papers in which this entity is mentioned.

• Advancing regulatory variant effect prediction with AlphaGenome. (2026)
• Mapping the genetic landscape across 14 psychiatric disorders. (2026)
• Specificity, length and luck drive gene rankings in association studies. (2026)
• MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
• Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders. (2025)
• Functional analysis of cancer-associated germline risk variants. (2025)
• Multiple overlapping binding sites determine transcription factor occupancy. (2025)
• ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
• A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (2025)
• KILDA: identifying KIV-2 repeats from kmers. (2025)
• Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (2024)
• 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)
• Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. (2024)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• Transient loss of Polycomb components induces an epigenetic cancer fate. (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)
• Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Pitfalls of predicting age-related traits by polygenic risk scores. (2023)
• Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. (2023)
• GenSLMs: Genome-scale language models reveal SARS-CoV-2 evolutionary dynamics. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (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)
• kataegis: an R package for identification and visualization of the genomic localized hypermutation regions using high-throughput sequencing. (2021)
• UMI-linked consensus sequencing enables phylogenetic analysis of directed evolution. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Inferring structural variant cancer cell fraction. (2020)
• Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. (2020)
• Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Rare variant phasing using paired tumor:normal sequence data. (2019)
• The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
• Best practices for bioinformatic characterization of neoantigens for clinical utility. (2019)
• Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
• Enter the Matrix: Factorization Uncovers Knowledge from Omics. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (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)
• Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
• GAVIN: Gene-Aware Variant INterpretation for medical sequencing. (2017)
• Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• The impact of structural variation on human gene expression. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• Integrated digital error suppression for improved detection of circulating tumor DNA. (2016)
• GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
• Somatic cancer variant curation and harmonization through consensus minimum variant level data. (2016)
• The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
• The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
• A global reference for human genetic variation. (2015)
• The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing. (2015)
• Genetic linkage analysis in the age of whole-genome sequencing. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• RADIA: RNA and DNA integrated analysis for somatic mutation detection. (2014)
• VariantDB: a flexible annotation and filtering portal for next generation sequencing data. (2014)
• The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
• Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
• Ultrasensitive detection of rare mutations using next-generation targeted resequencing. (2012)
• DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
• VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
• Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence. (2011)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)

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