Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA.
Wilk MA, et al.
Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004531. doi: 10.1101/mcs.a004531. Print 2020 Feb.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 32014855
Free PMC article.
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 clinica …
Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same C …