A general framework for estimating the relative pathogenicity of human genetic variants

Keywords

Biology, Annotation, Missense mutation, Allele, Computational biology

References

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Cited by

• Computational methods for identification of disease-associated variations in exome sequencingAlex H. Wagner, Edwin M. Stone, William N. Street — 2014
• Disease genetics: All together now for variant interpretationEzequiel Barbosa, Marcos Montenegro — 2014
• Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challengesA. Carlos de la Fuente Cullell — 2015
• Rare variant association studies: considerations, challenges and opportunitiesCY Tilley — 2015
• Novel SCN10A variants associated with Brugada syndrome.Soetanto Rifai — 2016
• Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth DiseaseXiaoxiang Xi, G. L. Carr — 2015
• Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsMufid Abudiab, Ahmed Mahdy — 2015
• A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportDavid A. deSilva — 2015
• Haplotyping germline and cancer genomes using high-throughput linked-read sequencingAli Nasur, Mohammad Reza Aghaye Ghazvini, Charles Curry — 2016
• Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.Saikat Santra, Jessie M. Cameron, Casper Shyr — 2016
• Exome Sequencing and the Management of Neurometabolic DisordersMaría Eugenia Tabernero — 2016
• The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicityJens G. Pohl, Arthur Chapman, Kym J. Pohl — 2016
• Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia敏之 畑中 — 2016
• Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African AmericansTabassum Afshar — 2016
• Landscape of warfarin and clopidogrel pharmacogenetic variants in Qatari population from whole exome datasets.Pedro Carballo Armas, Carmen Delia Díaz Bolaños, Venancio Carmelo Batista Machín — 2016
• Somatic Mutation Patterns in Hemizygous Genomic Regions Unveil Purifying Selection during Tumor EvolutionE.D. Minihan, R.D. Buzzard, Fort Worth Buzzard Consulting Firm — 2016
• Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease PathogenesisBabajan Banaganapalli, Omran M. Rashidi, Omar I. Saadah — 2017
• Germline SAMD9 Mutation in Siblings with Monosomy 7 and Myelodysplastic SyndromeRadamés Molina — 2017
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• Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean populationSangmoon Lee, Jihae Seo, Jinman Park — 2017

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