Sentences with phrase «after exome»
In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing.
http://www.matchmakerexchange.org/ Not exact matches
After gene mapping we had several candidate regions to choose but exome sequencing quickly identified the actual mutation.
After a grueling year of tests and hospital stays, exome sequencing finally confirmed Galya's diagnosis: Niemann - Pick type C (NPC), sometimes called «childhood Alzheimer's.»
And yet, even after you sequence the exomes of several family members (affected and unaffected) the causal variant or gene remains elusive.
Here, we sequenced the exomes of 244 Parkinson's patients selected from the Oxford Parkinson's Disease Centre Discovery Cohort and, after quality control, 228 exomes were available for analyses.