Article
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Clinical genetics - 1 Sept 2017
Balci T B, Hartley T, Xi Y, Dyment D A, Beaulieu C L, Bernier F P, Dupuis L, Horvath G A, Mendoza-Londono R, Prasad C, Richer J, Yang X-R, Armour C M, Bareke E, Fernandez B A, McMillan H J, Lamont R E, Majewski J, Parboosingh J S, Prasad A N, Rupar C A, Schwartzentruber J, Smith A C, Tétreault M, Innes A M, Boycott K M
Abstract excerpt
BACKGROUND: Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple genetic diagnoses in families is largely unknown. AIMS: We set out to identify the rate of multiple genetic diagnoses in probands and their families referred for analysis in two national research programs in Canada. MATERIALS & METHODS: We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.