Sentences with word «exome»

This was a well - written paper that showcased some of the advantages to whole - genome sequencing over exome sequencing for uncovering the genetic basis of rare diseases.

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

9:45 am: Robert Green (Platform presentation)- The BabySeq Project: Preliminary Findings from a Randomized Trial of Exome Sequencing in Newborns

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

The analysis of exome data fared little better, I'm afraid.

A. J. Hill, B. Cummings, K. J. Karczewski, M. Lek, D. G. MacArthur, Exome Aggregation Consortium (ExAC).

Remember, the success rate for exome sequencing of rare genetic disorders hovers at around 30 % overall.

That is why we refer to our sequencing as Exome +.

Prior exome studies of intellectual disability and schizophrenia, the authors note, have turned up sets of genes significantly overlapping those identified in the new ASD study.

performed exome sequencing on DNA from three affected and one unaffected family members.

Parla, J. S. and Iossifov, I. and Grabill, I. and Spector, M. S. and Kramer, M. and McCombie, W. R. (2011) A comparative analysis of exome capture.

Usability study of clinical exome analysis software: top lessons learned and recommendations.

Sequencing of 50 human exomes reveals adaptation to high altitude Yi, X., Y. Liang, E. Huerta - Sanchez, X. Jin et al..

They are also looking for genes, that contribute to cancer progression using whole genome sequencing or a method called exome sequencing which they developed with Greg Hannon to look at mutations in the regions of the genome that code for proteins.

Finally, I have a category of «other cancers» with exomes published in 2011; these include pancreastic cysts and cell lines, gastric cancer tumors, and prostate cancer samples derived through mouse xenograft models.

David FitzPatrick is also one of the leads on the large - scale, UK - wide, trio - based exome sequencing project Deciphering Developmental Disorders (DDD).

Wenqing Fu et al., «Analysis of 6,515 Exomes Reveals the Recent Origin of Most Human Protein - Coding Variants,» Nature, Vol.

299/4: 30 Large - scale exome chip association analysis identifies novel type 2 diabetes susceptibility loci and highlights candidate effector genes.

Of the roughly 300 patients who have received genetic information since Evans started ordering whole exome tests a couple of years ago, he says, six of them (or 2 percent) had incidental findings that required further testing or decisions about treatment.

McManus uses the following result to show how a cluster configuration that can meet a customer's requirements to support workflows that will double in the number of genomes processed per day over the next three years (e.g. 50, 100, and 200 genomes processed per day) and exomes processed per day over three years (e.g. 1k, 2k, and 4k).

She also counseled patients who had come to the Undiagnosed Diseases Network after years of trying to put a name on a mysterious sickness, explaining whether new technologies like exome sequencing might help and discussing patients» hopes and expectations.

Although many conditions may be simpler to diagnose by reading symptoms, we are rapidly nearing a point at which exome sequencing could be used to spot diseases before their effects are felt, or predict how people might respond to drugs or vaccination.

Three of the ETP samples in the extension cohort also underwent exome sequencing.

But we got it done, and the findings were striking: the number of coding mutations in HSC exomes directly correlated with the age of the volunteer.

The objective of this project is to leverage ongoing human patient exome and whole genome sequencing efforts to generate precision models...

To search for other characteristics of ccRCC tumors that influences immunotherapy response or resistance, the researchers used whole - exome DNA sequencing to analyze tumor samples from 35 patients treated in a clinical trial with the checkpoint blocker nivolumab (Opdivo).

This study did not disappoint: 650 of 722 cases underwent WGS, with the remaining 72 getting exome only.

And many not - quite - solved cases have promising (if unproven) leads after exome sequencing.

But rather than buying up a genetic research outfit, it decided to build its own in the form of the Regeneron Genetics Center (RGC), an ambitious four - year old effort to sequence as many exomes (the protein - encoding part of the genome) as possible, pair them with medical records, and accelerate drug development.

As part of these ongoing research activities, the DNA of Dravet patients without SCN1A mutations was analyzed by trio exome sequencing, which searches across the active parts of the genome for de novo mutations that have arisen in these patients (de novo mutations are DNA copying errors that occur in the parents» gametes or in the fertilized egg or embryo, resulting in the afflicted family member being the first person in their family to have this genetic condition).

Furthermore, exomes don't cover DNA in between genes, which help regulate gene activity, and variation there can also be important.

11:00 - 11:15 am: De-novo reconstruction of more than 6,000 pedigrees discovered from 51K de-identified exomes within the DiscovEHR cohort

The carrier burden in the NBS set was surprisingly high (0.57 per exome), with 45 % of individuals carrying at least one allele and 11 % carrying at least two alleles.

My institute and St. Louis Children's Hospital also launched a new initiative this year, called the Pediatric Genomics Board (PGB), to perform research exome sequencing for infants with severe (but undiagnosed) genetic disorders.

Taking advantage of this resource, our laboratory was the first to apply exome sequencing at scale for the discovery of naturally occurring genetic variants (mutations) that cause Mendelian disease in mice.

By analyzing these two exomes together with the genome sequence of a Neandertal from Siberia we show that the genetic diversity of Neandertals was lower than that of present - day humans and that the pattern of coding variation suggests that Neandertal populations were small and isolated from one another.

Within RD - Connect's sister project Neuromics, Hanns was the disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects was responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.

Cancer exome analysis reveals a T - cell - dependent mechanism of cancer immunoediting Nature DOI: 10.1038 / nature10755

FLAGS, frequently mutated genes in public exomes.

Melanoma was another cancer type surveyed by multiple exome sequencing studies in 2011.