Whole genome sequencing [NEW TOPIC PAGE]

Main|Search|PHGKB

Publication
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520 Similar articles in PubMed
Health Officials’ Latest Tool in Tool Box – Whole Genome Sequencing, National Law Review, November 24, 2015
One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies. Yuan Shuai et al. PLoS Comput. Biol. 2015 Aug 11(8) e1004448 Similar articles in PubMed
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Veenstra David L et al. Genet. Med. 2013 Jan 15(1) 14-24 Similar articles in PubMed
WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data. Ye Zhan et al. Comput. Biol. Med. 2015 Apr 8. Similar articles in PubMed
A systematic approach to the reporting of medically relevant findings from whole genome sequencing. McLaughlin Heather M et al. BMC Med. Genet. 2014 15134 Similar articles in PubMed
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, A Web-based Tool for Linking Investigators with an Interest in the Same Gene. Similar articles in PubMed
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Similar articles in PubMed
Self-guided management of exome and whole-genome sequencing results: changing the results return model. Similar articles in PubMed
US commission calls for protection of privacy in whole genome sequencing. Similar articles in PubMed
Fighting outbreaks with bacterial genomics: case review and workflow proposal. Similar articles in PubMed
A public resource facilitating clinical use of genomes. Similar articles in PubMed
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Similar articles in PubMed