LRG publication in Nucleic Acids Research 2014 Database Issue

Thu, 2014-02-13

A new publication from the LRG team has recently been published in the Nucleic Acids Research 2014 Database Issue

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants, Macarthur JA et al., Nucleic Acids Res. 2014 Jan (doi: 10.1093/nar/gkt1198)

This paper describes in detail the LRG creation process, content and organisation. It focuses on any developments since the 2010 Genome Medicine LRG paper. Also included is information on ways to access LRG data and report variants on LRGs.

Included in the Supplementary Data are descriptions of several case studies to illustrate how the LRG project has addressed challenging genomic regions, including TTN, TP53, BRCA1 and BRCA2.