Article
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015
Ritter Deborah I, Haines Katherine, Cheung Hannah, Davis Caleb F, Lau Ching C, Berg Jonathan S, Brown Chester W, Thompson Patrick A, Gibbs Richard, Wheeler David A, Plon Sharon E
Abstract excerpt
PURPOSE: We applied whole-genome sequencing (WGS) to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations to discover novel genic disruptions. METHODS: We applied the structural variation (SV) calling programs CREST, BreakDancer, SV-STAT, and CGAP-CNV, and we developed an annotative filtering strategy to achieve nucleotide resolution at the translocations....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.