Both researchers and clinicians are routinely
applying exome sequencing to rare inherited disorders.
Not exact matches
In the study, whole -
exome sequencing and a targeted analysis of 90 genes implicated in heart disease were
applied to 419 unrelated SIDS cases.
Conte et al
applied linkage mapping and
exome sequencing of a five - generation British family with dominant retinal degeneration and bilateral iris coloboma («holes in the iris»).
There's the question of what to do about return of information, especially for incidental / secondary findings that may come up when a broad assay (e.g.
exome) is
applied.
Exome sequencing was also
applied to many solid organ tumors, particularly carcinomas.
I'm thrilled that we've partnered with them and the Department of Pathology to start a Genomics Pediatric Board which will
apply panel,
exome, and whole genome sequencing to children afflicted with severe genetic diseases and their family members.
Under Dr. Mullikin's leadership, NISC has begun to
apply genome sequencing technologies to clinical research, especially with its largest project, called ClinSeq, for which NISC has generated more than 500 whole -
exome sequences to date.
A stepwise filtering approach was
applied to
exome variants to identify potential causal variants.