Keyword

variant filtering

Description: Variant filtering is a bioinformatics process that narrows genetic variant lists by applying criteria such as quality, annotation, or clinical relevance.

Primary topic: Genomics and Rare Diseases (36%)

OpenAlex ID: keywords/variant-filtering

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

2015 · Hui Yang, Kai Wang · Nature Protocols · 861

Calling Somatic SNVs and Indels with Mutect2

2019 · David Benjamin, Takuto Sato, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 712

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EAGER: efficient ancient genome reconstruction

2016 · Alexander Peltzer, Günter Jäger, et al. · Genome biology · 522

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GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

2013 · Umadevi Paila, Brad A. Chapman, et al. · PLoS Computational Biology · 429

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Unified representation of genetic variants

2015 · Adrian Tan, Gonçalo R. Abecasis, et al. · Bioinformatics · 401

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

2015 · Jenny C Taylor, Hilary C Martin, et al. · Nature Genetics · 376

VariantAnnotation : a Bioconductor package for exploration and annotation of genetic variants

2014 · Valerie Obenchain, Michael Lawrence, et al. · Bioinformatics · 335

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

2019 · Undiagnosed Diseases Network, Laure Frésard, et al. · Nature Medicine · 330

SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update)

2020 · Jorge Oscanoa, Lavanya Sivapalan, et al. · Nucleic Acids Research · 279

A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar

2022 · Erik Garrison, Zev N. Kronenberg, et al. · PLoS Computational Biology · 277

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Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

2016 · Patrick Maffucci, Charles A. Filion, et al. · Frontiers in Immunology · 263

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A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

2012 · Miao-Xin Li, Hong-Sheng Gui, et al. · Nucleic Acids Research · 247

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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

2012 · Jennifer J. Johnston, Wendy S. Rubinstein, et al. · The American Journal of Human Genetics · 207

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Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

2013 · Daniel C. Koboldt, David E. Larson, et al. · Current Protocols in Bioinformatics · 204

VarAFT: a variant annotation and filtration system for human next generation sequencing data

2018 · Jean-Pierre Desvignes, Marc Bartoli, et al. · Nucleic Acids Research · 201

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Evaluating drug targets through human loss-of-function genetic variation

2020 · Eric Vallabh Minikel, Konrad J. Karczewski, et al. · Nature · 187

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

2014 · Shai Carmi, Ken Y. Hui, et al. · Nature Communications · 187

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Variant Annotation and Functional Prediction: SnpEff

2012 · Pablo Cingolani · Methods in molecular biology · 184

Transcript expression-aware annotation improves rare variant interpretation

2020 · Beryl B. Cummings, Konrad J. Karczewski, et al. · Nature · 180

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Massively parallel sequencing and rare disease

2010 · S. B. Ng, D. A. Nickerson, et al. · Human Molecular Genetics · 178

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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

2012 · Isabelle Audo, Kinga M Bujakowska, et al. · Orphanet Journal of Rare Diseases · 175

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A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic datasets

2023 · Caitlyn Vlasschaert, Taralynn Mack, et al. · Blood · 166

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Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

2015 · Oyediran Akinrinade, Laura Ollila, et al. · European Heart Journal · 165

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Detecting false-positive signals in exome sequencing

2012 · Karin V. Fuentes Fajardo, David Adams, et al. · Human Mutation · 159

Exome sequencing makes medical genomics a reality

2009 · Leslie G Biesecker · Nature Genetics · 151

Works count: 1,317

Citation count: 16,580