Sentences with word «heterozygosity»

Khiabanian H, Hirshfield KM, Goldfinger M, Bird S, Stein M, Aisner J, Toppmeyer D, Wong S, Chan N, Dhar K, Gheeya J, Vig H, Hadigol M, Pavlick D, Ansari S, Ali S, Xia B, Rodriguez - Rodriguez L, Ganesan S. Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High - Depth, Tumor - Only Sequencing Data.

ASHG 2008: In - Common Loss of Heterozygosity in 3 Carcinomas May Guide Treatment Medscape Medical News - Nov 20, 2008

Significant effects of compound heterozygosity on NER subpathways relative to XpdTTD / KO cells were observed in XpdTTD / † XP cells but only for UV - UDS activity.

In this study, the authors reviewed SNP array data for 27 samples that had a recessive diagnosis, and found that 22 of them had one or more regions of reduced heterozygosity (ROH) larger than 10 Mbp.

San Nicolas island foxes were found to be monomorphic at 18 microsatellite loci but showed higher heterozygosity in MHC loci [17].

Heterozygosity for A / J - derived alleles at both Bhr1 and Bhr5 is sufficient to confer the airway hyperresponsive phenotype.

Contrasting effects of heterozygosity on survival and hookworm resistance in California sea lion pups.

Therefore, reducing genome heterozygosity through inbreeding is an effective strategy for acquiring high - quality draft genomes of non-model organisms.

This could result in a reduced gene pool and reduced genetic heterozygosity leading to other potential health risks.

On the other hand, a previous study in the Western Brazilian Amazon region (Rondônia State) did not correlate Fy heterozygosity with protection against P. vivax [17].

Mutations are predominantly autosomal recessive, and often act in compound heterozygosity [2]--[5].

Demonstration of loss of heterozygosity by single - nucleotide polymorphism microarray analysis and alterations in strain morphology in Candida albicans strains during infection.

«Recombination between pairs of sister chromosomes maintains heterozygosity» throughout the chromosome, noted the authors of the study, which was led by Aracely Lutes, a postdoctoral researcher in Baumann's lab.

Owning to the species» relatively low heterozygosity, de novo assembly produced much longer scaffold in bay scallop (N50 = 6.8 kb) than in Zhikong scallop (N50 = 1.5 kb)[26].

The peak at Depth = 40 implies heterozygosity, whereas the peak at Depth = 160 implies repetition.

Absence or reduced heterozygosity means that a patient's genome contains long stretches of homozygosity, which can be problematic if that region harbors a variant in an autosomal recessive disease gene.

362/11: 15 Insights, mechansims, and fundamental significance of copy - neutral loss of heterozygosity detected in oncology samples.

We assessed shared ancestry and admixture, relationships between haplotype heterozygosity and geography, and population differences in copy number variation throughout the human genome in the 1,043 individuals.

Ryan's group used a mouse model of embryonic homologous deletion of p53, while Kimmelman's group used a loss of heterozygosity mouse model of p53 (closer to human tumors).

DBA / 1 and DBA / 2 differ at a large number of loci (including the MHC H2 haplotype) which is most likely results from residual heterozygosity in the strain when the substrains were separated.

Inbreeding increases homozygosity and decrease heterozygosity.

When a breed standard or type is set, the animals within that breed have less heterozygosity than do animals in a random population.

It tended toward greater heterozygosity — a mix of gene versions — within individual dogs, maintained genetic diversity in the breed, and therefore lessened the likelihood that bad genes for things like eye disease would match up.

Loss of MHC allele heterozygosity and / or inadvertent selection for disease - associated alleles due to standard breeding practices may be involved in this increasing incidence of immune - mediated disease.»

Whereas human forms of CMS are often caused by compound heterozygosity, low levels of genetic diversity within purebred dog populations make simple recessive alleles more common.

In subsequent years as pups were born and reached maturity, they were assigned mates based on a computer program designed to prevent inbreeding in small populations, such as the fox, and maximize genetic heterozygosity (lack of similarity).

Moreover, the method reported here opens a door to assemble complex genomes with high heterozygosity and polyploidy.

Floppy - eared breeds show sharply reduced heterozygosity, suggesting this region, the highest FST region in any autosomal segment of the dog genome (Table 1), has undergone strong selection for floppy ear position or perhaps some correlated trait.

Researchers from BGI reported the most complete haploid - resolved diploid genome (HDG) sequence based on de novo assembly with NGS technology and the pipeline developed lays the foundation for de novo assembly of genomes with high levels of heterozygosity.

Some draft assemblies of the C. krusei genome had been produced prior to these researchers» work, but they were fragmented, a problem caused by a large amount of heterozygosity.

In oncology terms, this double - hit status is called «loss of heterozygosity,» or LOH, to signify that both versions (one from mom, one from dad) of the normal BRCA gene have been hobbled.

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.

If there is no heterozygosity of the diploid undergoing meiosis, why undergo sex if the genome is homozygous everywhere?

Compound heterozygosity is also associated with the recently reported combination XP and TTD (XPTTD) syndrome [8].

Am Soc Hum Genet 2009; 124 (Platform Presentation) Bebek G, Orloff MS, Eng C. Identifying head and neck squamous cell carcinoma signaling pathways from loss - of - heterozygosity / allelic imbalance regions.

Compared to the pacific oyster Crassostrea gigas [25] and the Zhikong scallop Chlamys farreri [26], the heterozygosity of the bay scallop genome is relatively low (0.9 %), likely because the bay scallop is an introduced species in China and because the specimen used for survey sequencing was inbred.

A common feature is the extensive loss of heterozygosity, which represents an essential source of inter-individual variation in this mainly asexual species.

This pathway involves the transcription factor Tbx1, heterozygosity of which causes cardiac defects associated with DiGeorge syndrome.

And they found that yeast has suffered from a loss of heterozygosity, in which there are two distinct alleles of a given gene present.

Some notable conclusions from the authors include: diploids are the most fit ploidy; copy number variation (CNV) is the most prevalent type of variation; most single nucleotide polymorphisms (SNPs) are very rare alleles in the population; extensive loss of heterozygosity is observed among many strains.