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Keyword

variant interpretation

Description: The evaluation of genetic variants to determine their possible effects and clinical or biological significance, often using genomic data.
OpenAlex ID: keywords/variant-interpretation
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 · Sue Richards, Nazneen Aziz, et al. · Genetics in Medicine · 32,379
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The Ensembl Variant Effect Predictor
2016 · William McLaren, Laurent Gil, et al. · Genome biology · 8,063
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ClinVar: improving access to variant interpretations and supporting evidence
2017 · Melissa J Landrum, Jennifer M Lee, et al. · Nucleic Acids Research · 4,167
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MutationTaster2: mutation prediction for the deep-sequencing age
2014 · Jana Marie Schwarz, David N Cooper, et al. · Nature Methods · 3,674
ClinVar: public archive of interpretations of clinically relevant variants
2015 · Melissa J. Landrum, Jennifer M. Lee, et al. · Nucleic Acids Research · 2,748
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 · Robert C. Green, Jonathan S. Berg, et al. · Genetics in Medicine · 2,542
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Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 · Jun Cheng, Guido Novati, et al. · Science · 2,110
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
2016 · Marilyn M. Li, Michael Datto, et al. · Journal of Molecular Diagnostics · 2,034
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
2013 · Yaping Yang, Donna M. Muzny, et al. · New England Journal of Medicine · 1,964
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
2019 · Erin Rooney Riggs, Erica F. Andersen, et al. · Genetics in Medicine · 1,772
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ClinGen — The Clinical Genome Resource
2015 · Heidi L. Rehm, Jonathan S. Berg, et al. · New England Journal of Medicine · 1,480
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Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
2017 · Valerie A. Schneider, Tina Graves-Lindsay, et al. · Genome Research · 1,183
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Towards precision medicine
2016 · Euan A. Ashley · Nature Reviews Genetics · 1,105
ClinVar: improvements to accessing data
2019 · Melissa J Landrum, Shanmuga Chitipiralla, et al. · Nucleic Acids Research · 991
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A framework for the interpretation of de novo mutation in human disease
2014 · Kaitlin E Samocha, Elise B Robinson, et al. · Nature Genetics · 979
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
2008 · Sharon E. Plon, Diana M. Eccles, et al. · Human Mutation · 911
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ACMG clinical laboratory standards for next-generation sequencing
2013 · Heidi L. Rehm, Sherri J. Bale, et al. · Genetics in Medicine · 907
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
2018 · Ahmad N. Abou Tayoun, Tina Pesaran, et al. · Human Mutation · 888
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Pathogenic Germline Variants in 10,389 Adult Cancers
2018 · Kuan-lin Huang, R. Jay Mashl, et al. · Cell · 834
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
2008 · C. Sue Richards, Sherri Bale, et al. · Genetics in Medicine · 830
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
2017 · Beryl B Cummings, Jamie L Marshall, et al. · Science Translational Medicine · 829
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Disease variant prediction with deep generative models of evolutionary data
2021 · Jonathan Frazer, Pascal Notin, et al. · Nature · 784
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The ExAC browser: displaying reference data information from over 60 000 exomes
2016 · Konrad J. Karczewski, Ben Weisburd, et al. · Nucleic Acids Research · 781
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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
2019 · Pedram Razavi, Bob T. Li, et al. · Nature Medicine · 771
Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
2011 · Abel González-Pérez, Nuria López-Bigas · The American Journal of Human Genetics · 765
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Works count: 7,308
Citation count: 178,600
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