Sentences with phrase «largest numbers of variants»

The largest numbers of variants identified by genome - wide association are copy - number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms.

Anyway, this new book by Philip Wesley Comfort looks at a large number of the variant readings from the textual families, and briefly explains what the variations are, and what Comfort thinks is the best reading for a particular variant.

At least in part to deal with such points, Eigen more recently pointed out that each biological genome is not a single sequence of bases on DNA (a unique «point in sequence space») but rather a fairly large number of variant sequences that have quite similar — even indistinguishable — biological functions.11 b, 11 c Most of these functionally similar sequences differ from the «wild - type» sequence in only one or a few locations, but some have fairly large discrepancies.

Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes for nonsyndromic hearing loss (NSH) L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western - European population are TMC1, MYO15A, and MYO7A.

Not exact matches

«We would anticipate that over time, a large number of functional variants [of HTR2B] will be identified, with a range of behavioural effects,» says David Goldman at the US National Institute on Alcohol Abuse and Alcoholism in Bethesda, Maryland, and head of the team that carried out the work.

Some scientists suspect that NSI phenotypes are better at spreading from person to person, even when the transmitter is carrying a large number of SI variants.

Breast cancer is caused by complex interactions between a large number of genetic variants and our environment.

As far as we're aware, it's the first study worldwide to show this in such detail, including a large number of genetic variants.»

Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, according to a study by Ivan Juric and colleagues at the University of California, Davis, published November 8th, 2016 in PLOS Genetics.

It is the largest ever to analyze genetic structural variants or copy - number variants (CNVs) of Tourette.

Many of the variants involved in numerous types of cancer have been identified with genetic sequencing studies of large numbers of patients.

Professor Samani, who is also Head of the Department of Cardiovascular Sciences at the University of Leicester and a Consultant Cardiologist at Leicester's Hospitals, added: «Height has a strong genetic determination and in the last few years a large number of genetic variants have been identified in our DNA that determines one's height.

Also, a number of large - scale genomics studies have linked variants of the CPEB4 gene with the impairment of fat metabolism.

Given that two separate teams found evidence for the same variant in a large number of sick people, «one can be absolutely confident that this risk allele is real,» says McPherson.

With its large sample size, this study had the power to find copy number variants with large effects that occur in more than 0.1 percent of schizophrenia cases.

«This mutation is one of a growing number of deCODE discoveries of relatively low frequency sequence variants with large effect,» said Kari Stefansson, deCODE's CEO and senior author of the study.

Targeted sequencing experiments yielded a large number of high - quality genetic variants in both humans and dogs.

«It might be difficult to imagine why the large number of gene variants that together give rise to traits like [autism spectrum disorder] are retained in human populations,» co-author and genetics and neuroscience professor Joel Gelernter said in a statement from Yale University.

Next generation sequencing was to include whole exome sequencing (WES) and whole genome sequencing (WGS) and analysis on large numbers of well characterized subjects to identify AD risk and protective gene variants.

Next generation sequencing includes whole exome sequencing (WES) and whole genome sequencing (WGS) and analysis on large numbers of well characterized subjects to identify AD risk and protective gene variants

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

I like this study because it demonstrates the importance of looking at both common and rare variants, in a large number of samples, to more comprehensively interrogate the genome for complex disease loci.

«We found that while hybridisation has not compromised the genetic distinctiveness of wolf populations, a large number of wild wolves in Eurasia carry a small proportion of gene variants derived from dogs, leading to the ambiguity of how we define genetically «pure wolves».

They simulated three possible models which had seemed plausible prior to large - scale sequencing, and computed the number of associated low - frequency and rare variants that would be uncovered with their study design.

Molecular profiling of large tumour numbers has also allowed the annotation of more than 13 million non-coding mutations, 18 029 gene fusions, 187 429 genome rearrangements, 1 271 436 abnormal copy number segments, 9 175 462 abnormal expression variants and 7 879 142 differentially methylated CpG dinucleotides.

By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants affecting the host invasion receptor genes GYPA and GYPB We find that a nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid genes, which encode a serologically distinct blood group antigen known as Dantu.

Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes.

In the current era of personalized medicine, we have identified a large number of genetic variants in patients with various diseases using next - generation sequencing.

There's a large number of distinct Turbo variants, of which most are represented in the RM sale.

Based on the recently launched Q7's MLB Evo platform, the zero - emissions SUV will be joined a number of other engine variants to compete with the large German coupe - crossovers like the BMW X6 and Mercedes - Benz GLE Coupe.

The hybrid powertrain is optionally available for a large number of model variants of the best - selling urban bus, even for the natural - gas - engined Citaro NGT.

Despite the popularity of compact crossovers, it seems somewhat odd there isn't a large number of hybrid variants.

High - performance RS versions are no longer available, as Skoda chose to focus on mainstream variants that attract larger numbers of buyers.

This capability significantly expands the functionality of the device and gives the user a large number of additional variants of its usage.

Recently we have developed improved methods for identifying variants of the DLA genes, in a large number of dogs of diverse breeds.

Standard Free For All and Team Deathmatch apply, and these also come in «large» variants which double the number of players.

There are a large number of endowment plans in the market with different variants.

And we're not talking about the larger Pixel 2 XL here; it's the smaller variant, the Pixel 2, that gets our recommendation for a number of reasons.

The arrival of three Galaxy S7 SKUs all at once present carriers with a large number of SKUs to sell — a tough ask when you consider each Galaxy S7 size and screen variant then has its own set of storage configurations and color options.

It is also only fair to mention that Google has collected this data based on visitors to the Play Store over a seven day period (ending December 1st) and thus should a large chunk of people running older OS variants simply not have accessed the official marketplace, the numbers would be somewhat different if they had.