Sentences with phrase «detect gene variants»

More recently, improved gene - sequencing technology and larger population studies have made it possible to detect gene variants that appear in only 1 percent of the human population.

Not exact matches

To identify gene variants associated with musical aptitude, Irma Järvelä at the University of Helsinki, Finland, and colleagues analysed the genomes of 767 people assessed for their ability to detect small differences between the pitch and duration of a sound, and musical pattern.

«A person could have a normal variant that is slightly shifted toward green, but [the problem] is that the remaining genes are shifted [in the wavelength they detect] and are too close together» to distinguish hues.

The new test uses a highly sensitive gene mutation detection method that is based on the partitioning of DNA into droplets to detect specific circulating tumor DNA mutations and RNA variants in whole blood.

A statistical algorithm then analyzes which gene variants the fetus has inherited from each parent and detects new mutations in the child's DNA.

BROCA detects all single base substitutions, insertions and deletions and copy number variants in all 24 genes implicated in breast cancer.

As well as Zika virus, the team has also used SHERLOCK to detect antibiotic resistance genes in Klebsiella pneumoniae bacteria, and health - related gene variants in human saliva.

As well as Zika virus, the team has also used SHERLOCK to detect antibiotic resistance genes in Klebsiella pneumoniae bacteria, and health - related gene variants in human saliva (Science, DOI: 10.1126 / science.aam9321).

Genetic tests, such as those used in this study, can detect common variants of genes associated with modest alterations in the chances of developing particular diseases.

Suspecting a possible involvement of the maternal ZIC1 gene variant, we suggested an immediate brain MRI examination of the mother, where it was revealed that she presents with the same structural brain malformations detected in all three fetuses.

Although the Fetalis pipeline is currently targeting and evaluating variants detected only in the 758 genes, the initial step in the analysis involves construction of a whole exome (WES) library and therefore whole - exome variant data are readily available.

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

Following up on findings from a an earlier genome - wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced an association detected in that study to variants in a specific gene, SLC16A11, and uncovered two distinct mechanisms by which those variants disrupt the gene's function in liver cells, possibly contributing to the pathogenesis of T2D.

We detected a burden of very rare, damaging missense variants in known Crohn's disease risk genes, suggesting that more comprehensive sequencing studies will continue to improve understanding of the biology of complex diseases.

And whole - exome tests can detect variants in all of the body's protein - encoding genes, comprising about 1 percent of the genome.

Interestingly, the association between the gene variants of the OTR and AVPR1A and the quality of pair bonding is also detected in the partner's perception of marital satisfaction (Walum et al., 2008, 2012).

Although recent research has demonstrated that the allele × environment strategy is promising for detecting individual vulnerability to environmental risk, reported associations between gene variants and complex behaviors are in general weak.