An algorithm for optimal testing in co‐segregation analysis
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24363
Abstract: Clinical genetic sequencing tests often identify variants of uncertain significance. One source of data that can help classify the pathogenicity of variants is familial cosegregation analysis. Identifying and genotyping relatives for cosegregation analysis can be… read more here.
Keywords: algorithm optimal; analysis algorithm; analysis; cosegregation ... See more keywords
Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Sign Up to like & getrecommendations! Published in 2019 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2019.11.025
Abstract: BACKGROUND AND AIMS Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in… read more here.
Keywords: hypercholesterolemia; stap1; family; predicted pathogenic ... See more keywords