Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk | Zendy

Regine M. Lim | Zendy; Ari Silver | Zendy; Maxwell Silver | Zendy; Carlos Borroto | Zendy; Brett Spurrier | Zendy; Tanya C. Petrossian | Zendy; Jessica L. Larson | Zendy; Lee M. Silver | Zendy

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Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk

Author(s) -

Regine M. Lim,

Ari Silver,

Maxwell Silver,

Carlos Borroto,

Brett Spurrier,

Tanya C. Petrossian,

Jessica L. Larson,

Lee M. Silver

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.52

Subject(s) - cystic fibrosis , allele , population , genetics , mutation , genetic testing , disease , genotype , exome , phenotype , biology , 1000 genomes project , identity by descent , cystic fibrosis transmembrane conductance regulator , exome sequencing , medicine , gene , environmental health , single nucleotide polymorphism , haplotype

Carrier screening for mutations contributing to cystic fibrosis (CF) is typically accomplished with panels composed of variants that are clinically validated primarily in patients of European descent. This approach has created a static genetic and phenotypic profile for CF. An opportunity now exists to reevaluate the disease profile of CFTR at a global population level.

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