Sentences with phrase «of rare alleles»

There is a genome - wide excess of rare alleles, at least partially due to selection.

The first two strategies manipulate the beacon such that the presence of rare alleles is obscured; the third strategy budgets the number of accesses per user for each individual genome.

Not exact matches

Because Neanderthal alleles are relatively rare, the researchers needed data representing a really large number of people.

So, if a gene lies within a gene - dense, low - recombination region, then this means that a much larger number of progeny from crosses must be examined to find those that derive from rare recombinational events that separate the desired new allele from undesirable forms of neighboring genes.

A rare, but synonymous, codon in alleles of a drug - resistance gene can change translation kinetics and so produce a conformationally distinct protein species.

The team uncovered strong signs of this imbalance between rare alleles and heterozygosity in two populations — one, in people living today in the Middle East, and the other in the Yakut, who live near the Bering Strait.

While 90 % of human SNPs have a minor allele frequency (MAF) below 5 % and therefore are hard to be identified as having an effect, the DO population is balanced by its design and rare variants are uncommon (only 2 % SNPs with MAF < 5 %).

One rare KRAS allele, D33E, displayed tumorigenicity and constitutive activation of known RAS effector pathways.

SM / J mice carry a number of rare polymorphic alleles and are often matched to other strains for quantitative trait locus analysis.

SM / J mice carry a number of rare polymorphic alleles and are often matched to LG / J (Stock No. 000675), A / J (Stock No. 000646) or NZB / BINJ (Stock No. 000684) for quantitative trait locus analysis.

Some of the associated variants were super rare (MAF < 1 %), suggesting that genotyping studies like this are well - powered to detect associations even at allele frequencies below one percent.

Performing genetic studies in multiple human populations can identify disease risk alleles that are common in one population but rare in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease alleles.

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.

Therefore, the high proportion of rare polymorphisms in our dataset likely reflects the true distribution of allele frequencies and can not be simply attributed to a higher Illumina sequencing or genotype calling error.

Germline BAP1 alleles defined as loss - of - function or predicted to be deleterious / damaging are rare in melanoma.

At low - density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference).

We identified rare variants with allele frequency up to 1 % in a reference panel of 433 European individuals from modern Finland, Spain, Italy, Netherlands and Denmark, for which genome - wide sequence data are available16, 17,18.

However, five genes were found to have a rare repeat expansion or contraction alleles of large magnitude in coding sequences, including: Six - 3 (Δ54 bp), Hox - a7 (Δ33 bp), Runx - 2 (ins45 bp), Hox - d8 (Δ30 bp), and Alx - 4 (Δ51 bp).

Although the newest edition of the authoritative textbook, Vitamin D, claims that in humans calcidiol binds with equal affinity to the DBP whether it is derived from vitamin D2 or vitamin D3, 37 the citation for this statement is the author's own PhD thesis, in which he reported results obtained from testing the DBP of a mere two people.48 Since the gene for the DBP is one of the most polymorphic known (meaning it exists in many forms), existing in three common alleles and 124 known rarer alleles (alleles are specific forms of the same gene), each allele itself having many polymorphisms, 37 a sample size of two is rather unconvincing.

The rare extra-long allele was observed only in two subjects, and in characterizing the genotype of these two subjects, the extra-long allele was classified as long.

In the final analysis, there were no individuals with the rare 2 - allele repeats, and only eight girls and five boys with the 5 - repeat variant of MAOA - uVNTR, due to missing values for other variables (Supplementary Table S1).