Article
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Cold Spring Harbor molecular case studies - 1 Feb 2020
Wilk Melissa A, Braun Andrew T, Farrell Philip M, Laxova Anita, Brown Donna M, Holt James M, Birch Camille L, Sosonkina Nadiya, Wilk Brandon M, Worthey Elizabeth A
Abstract excerpt
Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same CFTR genotype and environment. We postulated that genomic variation (modifier and/or pharmacogenomic variants) might explain these clinical discordances. From a cohort of patients included in the Wisconsin randomized clinical trial (RCT) of newborn screening (NBS) for CF, we identified two...
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