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Article

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

BMC medical genomics - 13 Feb 2018

Ivanov Maxim, Matsvay Alina, Glazova Olga, Krasovskiy Stanislav, Usacheva Mariya, Amelina Elena, Chernyak Aleksandr, Ivanov Mikhail, Musienko Sergey, Prodanov Timofey, Kovalenko Sergey, Baranova Ancha, Khafizov Kamil

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causing mutations have been characterized in detail by CFTR2 database, which complicates its analysis with conventional methods. METHODS: We conducted next-generation sequencing (NGS) in a cohort of 89...

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Identifiers

PMID: 29504914
DOI: 10.1186/s12920-018-0328-z
PMCID: PMC5836842

Genes

CFTR
FEV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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