A genome-wide linkage study for chronic obstructive pulmonary disease in a dutch genetic isolate identifies novel rare candidate variants
Chronic obstructive pulmonary disease (COPD) is a complex and heritable disease, associated with multiple genetic variants. Specific familial types of COPD may be explained by rare variants, which have not been widely studied. We aimed to discover rare genetic variants underlying COPD through a genome-wide linkage scan. Affected-only analysis was performed using the 6K Illumina Linkage IV Panel in 142 cases clustered in 27 families from a genetic isolate, the Erasmus Rucphen Family (ERF) study. Potential causal variants were identified by searching for shared rare variants in the exome-sequenc... Mehr ...
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Dokumenttyp: | Journal article |
Erscheinungsdatum: | 2018 |
Verlag/Hrsg.: |
Frontiers Media
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Schlagwörter: | Science & Technology / Life Sciences & Biomedicine / Genetics & Heredity / COPD / genetic linkage analysis / genetic isolate / rare variants / chromosome 11 / AIR-FLOW OBSTRUCTION / LUNG-FUNCTION / ALPHA1-ANTITRYPSIN DEFICIENCY / DRUG TRANSPORTERS / ASSOCIATION / POPULATION / PHENOTYPES / CANCER / PEDIGREES / SMOKERS |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26634107 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hdl.handle.net/10044/1/68230 |