Sentences with phrase «alleles identified»

All dogs that are unfurnished (ff) do not need the furnishing test (since they carry 2 copies of the high shedding allele) and should automatically add 2 to the number of high shedding alleles identified with the Shedding locus 1 test.

The workshop will also discuss other well described syndromes such as Li - Fraumeni germline TP53 mutations as well as inherited lymphoid malignancies and pedigrees of high interest that have no known genetic predisposition alleles identified.

Fourteen of the 16 mutant alleles identified were previously unknown.

Not exact matches

Individuals were classified as high risk for Alzheimer's if a DNA test identified the presence of a genetic marker — having one or both of the apolipoprotein E-epsilon 4 allele (APOE - e4 allele) on chromosome 19 — which increases the risk of developing the disease.

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

Thanks to the precise testing of Pm3 alleles, the best variations and combinations are identified and can then be used directly in traditional breeding by crossbreeding them into modern wheat varieties.

A forward genetic screen in Drosophila melanogaster (fruit flies) identified mutant copies, or alleles, of a gene called cacophony associated with defects in autophagy and cellular homeostasis.

We also identify variants at OCA2 that are correlated with alternative splicing; alleles associated with light pigmentation are correlated with a shorter transcript, which lacks a transmembrane domain.

In the 1990s, after two genes for familial breast cancer were identified, Dunston secured a NIH fellowship to study the alleles of breast cancer genes in the African American population.

To identify common functional variants, the authors used an allelic transmission disequilibrium test (TDT), which determines if an allele is transmitted more (or less) than we'd expect by chance.

The Harvard Woolly Mammoth Revival team headed by George Church (the Church Lab) is working to identify cold climate adapted alleles of the mammoth genome and edit them into living elephant cells.

CVC researchers Danila Valmori and Maha Ayyoub identify a new NY - ESO - 1 epitope, 119 - 143 (core region 123 - 137), presented by HLA - DR52b (HLA - DRB3 * 0202), an MHC class II allele expressed by half of Caucasians, that is immunodominant in the context of vaccine - elicited immune responses.

Current collaborative efforts using germ line DNA to identify risk alleles are ongoing.112 An improved understanding of the interaction between inherited risk alleles and the environment (lifestyle choices) could provide a potential means of prevention.

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 %).

The genetic variant identified to be associated with the brain aging rate at the TMEM106B locus is also extremely frequent: 80 percent of the population carries at least one copy of the allele associated with increased aging rate in their genome, Rhinn said.

Finally, we developed a hidden Markov model to identify regions of the genome with longer than expected tracks in which alleles shared among the domesticated horses coalesce more recently than alleles in the predomesticated horses.

Dr. Eng, who identified the MEN 2B allele while a postdoctoral fellow in Prof. Sir Bruce Ponder's laboratory at the University of Cambridge, UK and who currently leads the International RET Mutation Consortium, was the cancer genetics consultant for Dr. Sotos» hypothesis.

The extensive data sets of allele - specific expression across multiple tissues have allowed us to identify imprinted genes and characterize their properties.

To identify signatures of geographically restricted natural selection, the authors searched for DNase I peaks containing variants with significant allele frequency differences between individuals of African, European, and Asian ancestry.

Here, we identify three additional novel mutant alleles of the SHELL gene, which encode a type II MADS - box transcription factor, and determine oil yield via control of shell fruit form phenotype in a manner similar to two previously identified mutant SHELL alleles.

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.

Here we use a transgenic allele designed to detect low level transcription in the primitive endoderm lineage as a tool to identify an immediate early endoderm - like ES cell state.

OdsH, a hybrid male sterility gene identified from crosses between Drosophila mauritiana and D. simulans, is thought to encode a heterochromatin - binding protein, and differential DNA binding properties between alleles result in altered heterochromatic localization and chromosome decondensation [4].

We did not identify the JAK2V617F disease allele in B - lineage ALL (n = 83), T - cell ALL (n = 93), or CLL (n = 45).

These mutant kinases are attractive therapeutic targets, as demonstrated by the efficacy of imatinib in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknown.

We identified 7 DNA fragments corresponding to deletion D1, 37 fragments corresponding to D2, and 5 additional deletion alleles not observed in the solid tumor (Fig. 1C, labeled D3 through D7, Supplementary Tables S1 and S2).

Reversion alleles present in patient 1 ′ s and patient 2 ′ s DNA were identified by visual inspection and Pindel version 0.2.5 b9 (Supplementary Methods; ref.

However, it took whole - genome sequencing to identify the second disease allele, a heterozygous ~ 55 kb deletion spanning at least three other exons in the gene.

Sequencing - amplifying target site and sending for sequencing will identify those clones that have one or more alleles that have been modified

Thus, identifying one of these common alleles would not have the same implications for medical management as would finding a pathogenic mutation in BRCA1 or BRCA2.

The researchers identified a certain allele — an alternate form of a gene — that preserves brain cells in what they are calling a «breakthrough» finding, according to a report published in the EBioMedicine journal last month.

We carried out a non-complementation screen for new alleles of unc - 124 and identified four new mutations.

Here we present a rapid genome - wide approach capable of identifying multiple genetic drivers of medically relevant phenotypes within malaria parasites via a single experiment at single gene or allele resolution.

Due to extensive linkage disequilibrium and multiple polymorphic candidate genes in the HLA complex, identifying the alleles responsible for these associations has proven difficult.

We have identified common alleles of genes that contribute significantly to both of the principal processes involved in obesity — basic energy metabolism on the one hand and the regulation of appetite on the other,» said Kari Stefansson, CEO of deCODE.

An analysis of the geographical distribution of allele frequencies showed weak evidence of variation in distribution of alleles, with clusters representing a higher than expected number of samples with the major allele being identified for 5 SNPs.

We designed our strategy to select against re-targeting the «knockout - first» allele and identify essential genes in ES cells, including the histone methyltransferase Setdb1.

A failure to identify new unc - 124 alleles led us to sequence the unc - 7 coding region cloned from unc - 124 (hs10) mutants (strain HH34), and a TGC to TAC change (C238Y) in the predicted second TM domain of UNC - 7 was identified.

Classical genetic methods are biased towards alleles of strong affect — these are easy to identify during screens and easy to map.

This annotation was used to query 107 whole genome sequences from 19 breeds and identified over 5500 alleles across the 550 genes of the seven AR loci: the IG heavy, kappa, and lambda loci; and the TR alpha, beta, gamma, and delta loci.

Studying genomes of wild - born ferrets can help identify what alleles are selected in the wild in order to breed ferrets in captivity more suited to their particular release sites.

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.

Such strategies may identify compensatory mutations that reduce the pathophysiological effects of the risk alleles, and help determine the cellular pathways required for the normal function of hSERT.

15 In fact, type 2 diabetes (T2D)-- a condition stemming from broken glucose metabolism and insulin signaling — has been identified as an additional risk factor for developing AD.16, 17 Moreover, the pathological changes that occur in AD in the brain physically resemble those seen in the pancreas and vasculature in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key factor.

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.

In the case of S, there are four alleles, so other letters are used to identify them, S = Solid, which is dominant.

Dogs that are identified as having a mosaic genotype may pass on each of their mosaic M alleles if they are also present in the germ cells of the dog.

Five such blocks were identified where all 20 affected dogs were homozygous for the same allele, and 10 blocks where 19 of the 20 were homozygous for the same allele (Table 6).

For example, in collaboration with Dr. Leigh Anne Clark's group at the Clemson University in South Carolina we have identified an association of a specific DLA class I allele with pancreatic acinar atrophy in the German Shepherd Dog.

The test identifies seven mutations in three different genes which permits identification of the «risk alleles,» which are not causative of GDV but are highly associated.