Vanderbilt University Medical Center: EHRs, Biobanks and Mendelian Diseases
May 02, 2020
May 02, 2020
NASHVILLE, Tennessee, May 2 -- Vanderbilt University Medical Center issued the following news:
Cystic fibrosis (CF), a disease caused by a spectrum of variants in the CFTR gene, is one of the most common Mendelian diseases. CF continues to pose diagnostic challenges because of the variability in its clinical manifestations.
Xue Zhong, PhD, Nancy Cox, PhD, and colleagues now describe a novel approach to identify clinical diagnoses (phenotypes) that are consistent with CF . . .
Cystic fibrosis (CF), a disease caused by a spectrum of variants in the CFTR gene, is one of the most common Mendelian diseases. CF continues to pose diagnostic challenges because of the variability in its clinical manifestations.
Xue Zhong, PhD, Nancy Cox, PhD, and colleagues now describe a novel approach to identify clinical diagnoses (phenotypes) that are consistent with CF . . .