VarSome: the human genomic variant search engine

Kopanos et al. (Mon,) studied this question.

www.synapsesocial.com/papers/69d7750a5f9a1dad5349041a — DOI: https://doi.org/10.1093/bioinformatics/bty897

Also consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. International network of cancer genome projects· 2010 · 2,407 citations
2. DANN: a deep learning approach for annotating the pathogenicity of genetic variants· 2014 · 1,111 citations
3. Kaviar: an accessible system for testing SNV novelty· 2011 · 229 citations
4. 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 · 31,725 citations
5. UniProt: the Universal Protein knowledgebase· 2003 · 7,830 citations