Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

ABSTRACT:

Background

Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how some categories of genomic findings should be shared with individual research participants is currently a topic of international debate, and development of robust analytical workflows to identify and communicate clinically relevant variants is paramount.

Methods

The Deciphering Developmental Disorders (DDD) study has developed a UK-wide patient recruitment network involving over 180 clinicians across all 24 regional genetics services, and has performed genome-wide microarray and whole exome sequencing on children with undiagnosed dev

SUBMITTER: Wright CF 

PROVIDER: S-EPMC4392068 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature