Evaluation of population stratification adjustment using genome‐wide or exonic variants
Sign Up to like & getrecommendations! Published in 2020 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22332
Abstract: Population stratification may cause an inflated type‐I error and spurious association when assessing the association between genetic variations with an outcome. Many genetic association studies are now using exonic variants, which captures only 1% of… read more here.
Keywords: genome wide; association; exonic variants; population stratification ... See more keywords
Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.961384
Abstract: Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA… read more here.
Keywords: slc12a1 clcnkb; variants slc12a1; twelve exonic; minigene ... See more keywords