Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

•Full-gene CFTR sequencing identifies CF-causing genotypes in almost all individuals with CF.•Full-gene sequencing can identify gene rearrangements that are often missed by other technologies.•The presence of additional variants beyond the causal genotype may affect phenotype or drug response.•Full-...

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Veröffentlicht in:	Journal of cystic fibrosis 2022-05, Vol.21 (3), p.463-470
Hauptverfasser:	Raraigh, Karen S, Aksit, Melis A, Hetrick, Kurt, Pace, Rhonda G, Ling, Hua, O'Neal, Wanda, Blue, Elizabeth, Zhou, Yi-Hui, Bamshad, Michael J, Blackman, Scott M, Gibson, Ronald L, Knowles, Michael R, Cutting, Garry R
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles CFTR Cohort Studies Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genotype Humans Modulator therapy Mutation Variant annotation Variant identification Whole genome sequencing
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