Assessing risk for Mendelian disorders in a Bronx population
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.307
Abstract: To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate… read more here.
Keywords: medicine; assessing risk; mendelian disorders; bronx population ... See more keywords
Genetic diagnosis of Mendelian disorders via RNA sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/ncomms15824
Abstract: Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable… read more here.
Keywords: mendelian disorders; genetic diagnosis; disorders via; diagnosis mendelian ... See more keywords