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Keyword

variant annotation

Description: The process of interpreting genetic variants by associating them with genomic features, predicted effects, and biological or clinical significance.
OpenAlex ID: keywords/variant-annotation
The variant call format and VCFtools
2011 · Petr Danecek, Adam Auton, et al. · Bioinformatics · 16,281
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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
2012 · Pablo Cingolani, Adrian Platts, et al. · Fly · 11,761
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CADD: predicting the deleteriousness of variants throughout the human genome
2018 · Philipp Rentzsch, Daniela Witten, et al. · Nucleic Acids Research · 3,605
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HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
2011 · L. D. Ward, M. Kellis · Nucleic Acids Research · 2,229
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Transcriptome and genome sequencing uncovers functional variation in humans
2013 · Tuuli Lappalainen, Michael Sammeth, et al. · Nature · 1,885
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
2010 · William McLaren, Bethan Pritchard, et al. · Bioinformatics · 1,586
Ensembl 2021
2020 · Kevin L Howe, Premanand Achuthan, et al. · Nucleic Acids Research · 1,569
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Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
2012 · Pablo Cingolani, Viral M. Patel, et al. · Frontiers in Genetics · 1,064
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
2017 · Quan Li, Kai Wang · The American Journal of Human Genetics · 1,040
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Ensembl 2019
2018 · Fiona Cunningham, Premanand Achuthan, et al. · Nucleic Acids Research · 924
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An Evidence‐Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine
2021 · Michelle Whirl‐Carrillo, Rachel Huddart, et al. · Clinical Pharmacology & Therapeutics · 800
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Linking disease associations with regulatory information in the human genome
2012 · Marc A. Schaub, Alan P. Boyle, et al. · Genome Research · 713
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The UCSC Genome Browser database: 2014 update
2013 · Donna Karolchik, Galt P. Barber, et al. · Nucleic Acids Research · 670
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A survey of tools for variant analysis of next-generation genome sequencing data
2013 · S. Pabinger, A. Dander, et al. · Briefings in Bioinformatics · 596
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dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
2013 · Xiaoming Liu, Xueqiu Jian, et al. · Human Mutation · 587
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Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
2011 · Gregory M. Cooper, Jay Shendure · Nature Reviews Genetics · 575
Oncotator: Cancer Variant Annotation Tool
2015 · Alex H. Ramos, Lee Lichtenstein, et al. · Human Mutation · 504
Ensembl variation resources
2018 · Sarah E Hunt, William McLaren, et al. · Database · 454
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
2023 · Max Schubach, Thorben Maass, et al. · Nucleic Acids Research · 447
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RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data
2016 · Xiaowei Zhan, Youna Hu, et al. · Bioinformatics · 396
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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
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
2013 · Ekta Khurana, Yao Fu, et al. · Science · 365
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Next-generation sequencing and its clinical application
2019 · Qin Dahui · Cancer Biology and Medicine · 333
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
2018 · Caroline F. Wright, Jeremy F. McRae, et al. · Genetics in Medicine · 329
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Exploiting biological priors and sequence variants enhances QTL discovery and genomic prediction of complex traits
2016 · I. M. MacLeod, P. J. Bowman, et al. · BMC Genomics · 328
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Works count: 2,018
Citation count: 70,980
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