Sentences with phrase «whole genome sequencing identifies»

Whole genome sequencing identifies several million variants in an individual that differ from the reference genome.

Not exact matches

Whole - genome sequencing identifies inherited noncoding variants in families affected by autism spectrum disorder.

To address this gap in knowledge, Mirabello and Schiffman teamed up with co-senior author Robert Burk of Albert Einstein College of Medicine to sequence the whole genomes of 5,570 HPV16 - infected cell and tissue samples from women around the world and to identify associations between HPV16 genetic variants and the risk of cervical precancer and cancer.

Described in the January 7th issue of Neuron, the technique uses «deep,» highly sensitive whole - genome sequencing of single neurons and a new technology that identifies inserted bits of DNA caused by retrotransposons, one of several kinds of so - called somatic mutations that can arise as the brain develops.

Whole genome sequencing (WGS), which is the process of determining an organism's complete DNA sequence, can be used to identify DNA anomalies that cause disease.

Now, in a series of recent studies, scientists at the University of Missouri are using whole genome sequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesticgenome sequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesequencing through the 99 Lives Cat Genome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domesticGenome Sequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domeSequencing Consortium to identify genetic variants that cause rare diseases, such as progressive retinal atrophy and Niemann - Pick type 1, a fatal disorder in domestic cats.

In another study representing the first time precision medicine has been applied to feline health, Lyons and her team used whole genome sequencing and the 99 Lives consortium to identify a lysosomal disorder in a 36 - week - old silver tabby kitten that was referred to the MU Veterinary Health Center.

After the sorting, we performed whole genome amplification on individual aggregates then sequenced the 16S rRNA marker genes to identify cells comprising the aggregate.

Using whole exome sequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted at the Baylor College of Medicine Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with thesequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted at the Baylor College of Medicine Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with theSequencing Center, the researchers identified CLP1 mutations in two unrelated families with the disorder.

The Yale - led study performed whole exome sequencing ¬ — a technique for sequencing all the expressed genes in a genome ¬ — on TNBC tumors to identify mutations in specific genes or pathways that may indicate response or resistance to the standard of care, which is anthracycline / taxane (ACT) chemotherapy.

In these experiments, Berger and colleagues show that somatic PREX2 mutations identified through whole - genome sequencing of human melanoma can contribute to enhanced lethality of tumor xenografts in nude mice (Figure 3B, S6B, and S6C; Berger et al., 2012).

«Thanks to whole - genome sequencing, we were able to identify a larger number of mutations,» he said.

The whole genome and RNA sequencing data were analyzed by a team of bioinformaticians and oncologists at the NYGC as well as a beta version of IBM Watson for Genomics, an automated system for prioritizing somatic variants and identifying potential therapies.

The team identified eight new genes involved in this type of epilepsy thanks to their use of whole - genome sequencing, which had never been done before in an epileptic study of this scope.

Adaptation and possible ancient interspecies introgression in pigs identified by whole - genome sequencing Ai, H., X. Fang, B. Yang, Z. Huang, H. Chen et al. 2015.

This project indicated that not only a vast number of novel potentially functional variants in a total of 231 pharmacogenes was identified but also demonstrated the value of whole - genome sequencing for pharmacogenomic testing by capturing over 18,000 variants per individual in these pharmacogenes.

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

For this compilation, I've emphasized publications in which whole - genome or exome sequencing was employed to multiple tumors or cancer cell lines, with the goal of identifying significantly altered genes or pathways in malignant cells.

By comparing the whole genome sequence of the lab - cultured resistant strain with a sibling strain that had not been exposed to the drug, they were able to identify several mutations of interest in a number of genes.

In the very near future, it may become feasible and cost - effective to perform whole - genome sequencing (WGS) on hundreds or thousands of tumors of a certain type to exhaustively identify recurrently mutated genes.

She said the findings underscored the importance of sequencing the whole genome, not just the protein - coding regions — or exome — to identify the mutations driving cancer in children.

To reconstruct modern human evolutionary history and identify loci that have shaped hunter - gatherer adaptation, we sequenced the whole genomes of five individuals in each of three different hunter - gatherer populations at > 60 × coverage: Pygmies from Cameroon and Khoesan - speaking Hadza and Sandawe from Tanzania.

DNA from two large families affected by EDs was collected, and mutations segregating with illness were identified by whole - genome sequencing following linkage mapping or by whole - exome sequencing.

PHG Foundation has previously carried out work examining the implications of whole exome and genome sequencing on clinical services which identified data sharing as a key priority for these technologies to be deployed effectively for clinical benefit.

In this study, using whole - genome DNA sequencing (WGS) and confirmation by Sanger sequencing, we observed mutations identified in several genes not previously known to be recurrently altered in SMZL.

Whole - genome sequencing of an affected individual on ABI SOLiD identified a few dozen novel missense mutations; among them lurked the causal variant, which was found to segregate with the disease in a family cohort.

Elizabeth A. Winzeler of the University of California, San Diego, uses big data from whole - genome sequencing and genomics to identify novel drug targets and genes that contribute to pathogen drug resistance.

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.

The lab sequences whole genomes, whole exomes and targeted regions of the genome with ultrahigh - throughput DNA sequencing technologies to identify DNA sequence variants relevant to clinical and basic biological problems.

Whole - genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

In this study, we utilized patterns of mutagenesis known as mutational signatures, which are imprints of the mutagenic processes associated with MMR deficiency, to identify MMR - deficient breast tumors from a whole - genome sequencing dataset comprising a cohort of 640 patients.

Using whole - genome phylogenetic analysis, we placed these in the context of previously sequenced K. pneumoniae populations from geographically diverse countries and identified their virulence and drug resistance determinants.

To this end, we determined the susceptibility of 38 NAPCR1 isolates to ten antibiotics from seven classes using E-tests or macrodilution tests and examined 31 NAPCR1 whole - genome sequences to identify single nucleotide polymorphisms and genes that could explain the observed resistance phenotypes.

We accessed whole genome sequence data for 2,283 MRSA isolates from 1,465 people identified during a 12 - month prospective study between 2012 and 2013 conducted in the East of England, United Kingdom.

While whole genome sequencing studies have failed to identify coding mutations in 40 % of the cases, there is evidence from recent efforts to annotate the non-coding sequence that over 80 % of the genome is biochemically active.

We analyzed whole genome sequences of 1,680 Streptococcus pneumoniae isolates from four independent populations using GWAS and identified probable hotspots of genetic variation which correlate with phenotypes of resistance to essential classes of antibiotics.

Today, whole genome sequencing can be used to identify variants linked to rare undiagnosed and misdiagnosed disease.

Kp isolated from screening swabs and clinical diagnostic samples were characterized using whole genome sequencing and combined with epidemiological data to identify likely transmission events.

Whole genome sequencing on next - generation instruments provides an unbiased way to identify the organisms present in complex metagenomic samples.

Whole genome sequence data of the mutants with altered cell shape, directed mutants, wild type stocks and isolated helical and rod - shaped «wild type» C. jejuni, identified a number of different mutations in pgp1 and pgp2, which result in a change in helical to rod bacterial cell shape.

Here we use whole - genome sequences of normal blood from 241 adults to identify 163 early embryonic mutations.

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.

Develop a targeted family history to assess genetic risks in children and adolescents Identify clinical indications for whole exome / whole genome sequencing

We used direct whole genome sequencing to identify T.p subsp.

Background: Whole - genome sequencing (WGS) has typically been used to confirm or refute hospital / ward outbreaks of methicillin - resistant Staphylococcus aureus (MRSA) identified through routine practice.

Project Title: Using functional studies to explore potential high penetrance melanoma susceptibility genes identified using whole exome and genome sequencing.

In our laboratory we study the relation between the genetic variation that were identified in genome - wide association studies (GWAS) or by whole exome / genome sequencing (WES / WGS) and the cardiac disease.

The 99 Lives Whole Cat Genome Sequencing Initiative could help identify the cause of cats» fur and eye color, and, more importantly, the source of feline health problems.

We are eager to use whole genome sequencing to identify the mutations responsible for other heritable canine diseases.