This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.
In a trial involving 30 adult patients with sickle cell phenotype with or without thalassemia, Hsieh and coauthors report that after undergoing nonmyeloablative allogeneic hematopoietic stem cell transplantation from human leukocyte antigen–matched siblings, 26 patients achieved long-term engraftment.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
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