Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis

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 pati...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2020
Gaiak:
Research Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6996517/
https://ncbi.nlm.nih.gov/pubmed/32014855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004531
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