Sentences with phrase «nonsynonymous variants»

Yet each one tells a different story: (a), how novel - to - dbSNP variants were rare; (b), how nonsynonymous variant frequencies are shifted to lower values relative to those of synonymous variants, (c), how this shift in allele frequencies is more pronounced for damaging nsSNPs, consistent with natural selection, and (d), how the sizes of observed indels are enriched for non-frameshift events divisible by 3.

Not exact matches

Instead, the authors identified nonsynonymous coding variants in met WGS data, and validated them by PCR / 3730 sequencing in the met, tumor, and normal samples.

By sequencing the exomes of multiple individuals, isolating what we'd call «tier 1» variants — Nonsynonymous, nonsense, splice site, or frameshift - indel — and then removing all known common variants from public databases, Dr. Shendure and colleagues can reduce 20,000 gene candidates down to a handful.

Helgason H A rare nonsynonymous sequence variant in C3 is associated with high risk of age - related macular degeneration

Methods.: Dogs of various breeds, affected or unaffected with primary glaucoma, were genotyped for the Gly661Arg variant of ADAMTS10, as well as 7 other nonsynonymous single nucleotide polymorphisms (SNPs) in other genes in the beagle POAG locus that segregate with disease.

Results.: For the nonsynonymous SNPs other than the ADAMTS10 variant, control dogs were identified that were homozygous for the alternative alleles, ruling out those variants as causative.