Sentences with phrase «nucleotide variants»

In a study, published in Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formation.

In the current study, which was conducted in mice, scientists have analyzed one particular single nucleotide variant in a region associated with increased risk for developing colorectal and prostate cancers, but whose mechanism of action has been unclear.

In a study, published in Science, they have investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formation.

The researchers developed the tool, MIDAS, for rapidly profiling differences in gene content and single nucleotide variants across bacterial strains.

[PMID 26175754] DNA methylation and single nucleotide variants in the brain - derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety / depression in older women

About three - quarters of single nucleotide variants — a mutation that substitutes just one nucleotide (an A, C, T or G) in the long string of DNA — occurred within the past 5,000 years, surprising considering that our species may be 200,000 years old.

The kit also preserves the single - nucleotide variants (SNVs) and SNV frequencies across different sequencing technologies and allows the amplification of cell - free DNA to levels that permit sequencing.

Recent reports have found that conventional cell isolation and genome amplification strategies, even using MDA, can yield as many as a million false positive single - nucleotide variants in a human genome, swamping the true positives (1).

It's an especially serious problem for researchers who want to identify single - nucleotide variants.

Nextera library construction and Illumina sequencing provided the most complete genome assembly and reliable intrahost single - nucleotide variant (iSNV, frequency > 0.5 %) identification (6).

All three teams found sections of DNA — haplotypes — that differed and ultimately pinpointed a single - letter difference that changed the amino - acid content of complement factor H. HapMap researchers say that refining the map further will speed up such discoveries, and they plan to release a new version this month that will include 4 million single - nucleotide variants.

The analysis of Ata's DNA identified about 3 million single nucleotide variants (SNVs), places where a «letter» in the genetic code differs between individuals.

Monovar improves further on the new SCS's computational tools which scientists found «lacking» by more accurately detecting slight alterations in DNA makeup known as single nucleotide variants (SNVs).

It has a faster turnaround time, no hybridization required, and it surveys everything from single nucleotide variants to large deletions.

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.

We will restrict our scope here to single nucleotide variants (SNVs) and short indels.

With an average 86,495 single - nucleotide variants (SNVs) per tumor, cutaneous melanoma has one of the highest somatic mutation rates of any cancer.

Distinguishing single - nucleotide variants (SNVs) from errors in whole - genome sequences remains challenging.

Whole - genome sequencing (WGS) marks the final step in increasing genetic marker density by assaying all single - nucleotide variants (SNVs), and thus has the potential to further improve relationship detection by enabling more accurate detection of IBD segments and more precise resolution of IBD segment boundaries.

The tool allows for the prioritization of single nucleotide variants to identify those that are likely to be involved in disease.

Anna Vorobyeva is characterizing human autism - associated single nucleotide variants (SNVs) in genes encoding proteins that regulate global protein synthesis.

Panel tests should report not only single - nucleotide variants and small indels, but also structural variants (deletions and duplications) that might span exons or entire genes.

These modifications of the genome range from single - base changes (single - nucleotide variants) to insertions or deletions of a few bases (indels) to chromosomal rearrangements and occur during the whole life, starting from the first division of the embryo.

In addition to the large CNV mutations they had spotted earlier, they also found de novo changes in single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more complex.

This is borne out in our sequencing results with only one common single nucleotide variant and two private alleles identified in the 7.2 kb of nonrepetitive DNA sequenced for our panel.