نتایج جستجو برای: run of homozygosity

تعداد نتایج: 21168121  

2011
Maris Kuningas Ruth McQuillan James F. Wilson Albert Hofman Cornelia M. van Duijn André G. Uitterlinden Henning Tiemeier

Runs of homozygosity (ROH) are extended tracts of adjacent homozygous single nucleotide polymorphisms (SNPs) that are more common in unrelated individuals than previously thought. It has been proposed that estimating ROH on a genome-wide level, by making use of the genome-wide single nucleotide polymorphism (SNP) data, will enable to indentify recessive variants underlying complex traits. Here,...

Journal: :JNCI Journal of the National Cancer Institute 2003

2002
Stephen Henry Rosella Mollicone John B. Lowe Bo Samuelsson Goran Larson

While screening Le(a+b+) Polynesian DNA samples for a candidate Sew allele, a point mutation (C5”+T) resulting in a new stop codon (Arg19’+stop) in the a( 1,2)fucosyltransferase gene (FUT2) was identified. This point mutation resulted in the gaining of a new restriction enzyme cleavage site (DdeI), which allowed restriction enzyme cleavage screening of 40 selected Polynesians and 42 random Cauc...

Journal: :IEEE Transactions on Components, Packaging, and Manufacturing Technology: Part C 1996

Journal: :SSRN Electronic Journal 2017

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