Sentences with phrase «disease sequencing studies»

The CCDG award, when viewed in the light of the recent NIH budget increase, also presents a unique opportunity to seek funding for other large - scale common disease sequencing studies that might be co-funded with other institutes.

Not exact matches

In the study, whole - exome sequencing and a targeted analysis of 90 genes implicated in heart disease were applied to 419 unrelated SIDS cases.

«Gene sequencing study reveals unusual mutations in endometriosis: Findings advance search for new ways to classify aggressive forms of the disease.»

Now Robert Belshaw at Plymouth University, UK, and Gkikas Magiorkinis at the University of Oxford, who study whether these viral DNA sequences contribute to disease, have found evidence that we do share some of these sections of DNA with our extinct cousins.

«Gene sequencing has opened a huge door to how complex these communities are,» says Patrick Seed, a Duke pediatrician specializing in infectious disease, who with biologist Rob Jackson is a lead investigator of the premature infant study.

In a recent endometrial cancer study you led, whole genome sequencing turned up mutations that had never been seen in that disease.

In the next phase of the study, researchers will genetically sequence tumor cells from at least 500 patients and follow the course of their disease.

Future studies might explore whether people with Alzheimer's disease, dementia, epilepsy or other neurological disorders have mutations in these overlooked non-coding sequences.

Studies comparing the mouse and human sequences that accompany the mouse genome in the journal Nature suggest it provides plenty of new leads in biology and disease.

«It has shown that the value of sequencing a few thousand individuals is high for highly penetrant, rare diseases, but that for complex traits and diseases much larger sample sizes will be required in future studies.

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 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 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 a study appearing June 29, 2015, in the journal Nature, the researchers compared thousands of human disease - causing mutations with the analogous sequences of some 100 animal species.

For the first time last year, Sandia microbiologists studying infectious diseases sequenced the entire genome of a Klebsiella pneumoniae strain that encodes New Delhi metallo - beta - lactamase (NDM - 1).

Though the DNA sequence in question was not known, Kornberg hoped the achievement would aid studies of genetics and the search for cures for diseases, and reveal the most basic processes of life itself.

The largest - ever study to sequence the whole genomes of breast cancers has uncovered five new genes associated with the disease and 13 new mutational signatures that influence tumour development.

Genomics studies like those commonly conducted with HeLa cells play an instrumental role in revealing how variation in genome sequence and function can lead to disease.

This study uncovered non-coding RNAs» cancerous role by using high - throughput sequencing techniques to analyse reams of genetic information on normal and diseased tissue as part of the Cancer Genome Atlas project.

Canadian researchers conducted a pilot study with 20 newborns to determine the effectiveness of a targeted next - generation sequencing panel that included all 4813 genes currently known to be associated with rare diseases.

Will you now use family genome sequencing to study other, more common and complex diseases?

«Next - generation sequencing technology has allowed us to find new causes of genetic diseases in much smaller families,» explained the study's lead author, William Motley, MD, PhD, a resident physician in Medicine.

Researchers studying a protein that causes a hereditary degenerative brain disease in humans have discovered that the human, mouse and hamster forms of the protein, which have nearly identical amino acid sequences, exhibit distinct three - dimensional structures at the atomic level.

«I suspect as we dig deeper into sequencing and family studies, we'll see more and more CNVs representing a portion of the genetic architecture that explains diseases,» he says.

This is the first study describing the composition of the eye microbiome of a non-human mammal by high - throughput sequencing and it establishes the healthy baseline for this body part to which microbiomes of diseased states can be compared.

Their proposed «global alliance,» as they call it for now in a white paper, aims to develop standards — analogous to protocols for building Internet web pages — that will enable researchers around the world in fields from cancer to rare diseases to securely share and study patients» genome sequences and clinical information.

«These sequences then become the targets for a far narrower set of follow - up gene function studies in F. graminearum by reverse genetic experimentation to pinpoint the genes essential for the disease - causing abilities of this pathogen.»

So far, «genome - wide association studies» have identified variant DNA sequences showing statistical association with these and other complex diseases, but demonstrating a mechanistic role for these variants has proven elusive.

The CCDG marks a new direction for NHGRI's flagship sequencing program to comprehensively study the genetic architecture of common disease.

In this study, we used ribosomal RNA gene sequencing to identify the zooxanthellae, bacteria and archaea associated with healthy and yellow band diseased (YBD) colonies in the Media Luna reef of La Parguera, Puerto Rico, in order to examine the influence of YBD on the Montastraea faveolata microbiome.

Our study provides hints that at least some of the apparent sub-types in ME / CFS could be due to differences between DNA sequences in the patients, even though we have no evidence that particular mitochondrial genomes lead to increased susceptibility to the disease itself.

Research Assistant, Department of Plant & Microbial Biology June 2002 — January 2004 UC Berkeley, Berkeley, CA Principal Investigator: Dr. John Taylor The lab studies the evolutionary relationships of fungi, concentrating on the fungi that cause plant and human diseases, by sequencing DNA from different fungi and using the differences in sequence to infer their genealogy.

The freely - available software package, MendelScan, is designed to help researchers score and prioritize candidate variants in family exome sequencing studies of Mendelian disease.

In the past few years, whole - genome sequencing (WGS) studies performed in families (especially parent - child trios) have offered some revelations about de novo mutations and their role in human disease, notably that:

For the study, the team analyzed viral genomic sequences from 232 patient samples collected over the 7 - month spread of the disease in Sierra Leone, along with 86 genome sequences reported earlier in the epidemic.

The objective is to answer questions that go beyond the initial hypotheses that underlay the studies to shed light on how genome sequence, structure and usage relates to disease, disease initiation, disease progression and disease mechanisms.

A high resolution description of the structure and dynamics of proteins is a very useful tool to study the properties and the function of these important biomacromolecules and, most importantly, to understand how changes in sequence or environment can lead to disease.

As a result, we're seeing exome and genome sequencing studies published all over the place, not just in genetics / genomics journals but also many that focus on specific tissues (e.g. blood) or diseases (e.g. cancer, metabolic diseases, vision disorders, you name it).

«We can also use them to study inherited diseases and genetics, plus they were the first animal to have their genome sequenced by scientists, in 1998.»

The ClinSeq ® study was comparing the genetic characteristics of healthy people and patients with heart disease, and it would involve «full gene sequencing.»

Transcriptome studies such as the National Institute of Health's Genotype - Tissue Expression (GTEx) program aim to overcome this limitation by studying gene expression levels and regulation mechanisms and their relationship with diseases, instead of only DNA sequence.

In these studies, sequence data from several thousands of individuals is compared to find disease - associated genes where cases have a higher load of genetic variants that are likely to disturb gene function, compared to the controls.

(15 Nov 2012, University of Oxford): A new study has demonstrated how DNA sequencing techniques can map tuberculosis (TB) outbreaks, allowing the spread of disease to be tackled more quickly and effectively.

As a follow - up to my previous post, Disease - causing Mutations Discovered by NGS in 2011, I've attempted to compile cancer genome and exome sequencing studies published last year.

Qualified investigators can obtain: (1) cleaned, quality control checked sequence data, (2) information on the composition of the study cohorts (e.g. case - control, family based, and epidemiology cohorts), (3) descriptions of the study cohorts included in the analysis, and (4) accompanying phenotypic information such as age at disease onset, gender, diagnostic status, and cognitive measures.

The Alzheimer Disease Sequencing Project (ADSP) Family Based Study The ADSP has generated whole genome sequence (WGS) data from members of families multiply affected by late onset Alzheimer's disease Disease Sequencing Project (ADSP) Family Based Study The ADSP has generated whole genome sequence (WGS) data from members of families multiply affected by late onset Alzheimer's disease disease (LOAD).

Please see NOT - AG -16-033 Notice of Information: The Alzheimer's Disease Sequencing Project Policy (ADSP) on the Publication of Study - Related Data for details.

Genomes that have been sequenced as part of a GWAS can be run through PrediXcan to generate a gene expression level profile, which is then analyzed to determine the association between gene expression levels and the disease states or the trait of interest being studied.

In exome sequencing studies of Mendelian disorders, any variant already present in dbSNP was usually common, and therefore unlikely to cause rare genetic diseases.

In total, this third call will provide 30 million SEK in support for sequence analysis of unique and well - characterized sample collections to study either the genetic basis of disease or environmental effects on biodiversity.

Supervises wet lab, building amplicon, genomic and metagenomic libraries using various approaches to sequence on variety of platforms (illumina as well as PacBio) to study the understanding of the relationship between the microbiome and metabolic diseases.

I am also involved in making various types of amplicon as well as whole - genome shot gun libraries to sequence on different illumina platforms (MiSeq, NextSeq, HiSeq) and PacBio to study the relationship between microbiome and several diseases.