Analysis of 2,440 human exomes highlights the evolution and functional impact of rare coding variation

By Jay Shendure. Genome Biology, 2011

2,007 citations recorded by the source corpus.

The field of human genetics is being reshaped by exome and genome sequencing. Several lessons are evident from observing the rapid development of this area over the past 2 years, and these may be instructive with respect to what we should expect from 'next-generation human genetics' in the next few years.

View Paper: https://www.semanticscholar.org/paper/7d5d35fd71ac308a8af26ee2e248c46be03d512f

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Citations in the corpus

• COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer (2010, methodology): “As previously described (1,2), COSMIC combines cancer mutation data manually curated from the scientific literature, with the output from the Cancer Genome Project (CGP) at the Sanger Institute UK.”
• miRTarBase update 2022: an informative resource for experimentally validated miRNA–target interactions (2021, methodology): “In detail, miRNA regulatory information was collected from TransmiR (32) and miRSponge (33); SNPs and DRVs were collected from dbSNP (15), GWAS Catalog (16), ClinVar (17) and COSMIC (18); disease associations were obtained from HMDD (34); gene and miRNA expression profiles, including circulating and”
• A deep learning approach to pattern recognition for short DNA sequences (2018, methodology): “…method as simple as possible so results directly reflect the model’s sequence-labeling performance, but note that integrating the model’s outputs into a more sophisticated analysis pipeline (for instance, inspired by MetaPhlAn 6 ​ or MetaPhyler 35 ​ ) would likely improve profiling results.”
• Ensembl 2012 (2011, background): “43 272 somatic mutations from COSMIC (36) and 61 793”
• FlyBase: a guided tour of highlighted features (2022, background): “2017), COSMIC (Tate et al. 2019), and SFARI Gene (Banerjee-Basu and Packer 2010).”