Sentences with phrase «based exome»

Here we present 3 unrelated children with de novo loss - of - function (LoF) mutations in QRICH1, diagnosed through trio - based exome sequencing.

Not exact matches

Joining the hunt is a UK - based program called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes by the year's end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay.

They also performed an exome capture — based analysis of domestication among wild and domesticated genotypes of emmer wheat.

The research is based on whole exome sequencing (WES), which is the part of the genome translated into proteins.

Users upload a patient's whole genome or exome sequence via a web - based interface, and the sequence is analyzed and filtered using various computational tools and databases of disease - causing mutations.

To determine the genetic basis for his exceptional response, researchers at the Dana - Farber Cancer Institute, Stanford University, Brigham and Women's Hospital and elsewhere performed targeted and whole - exome sequencing on his leukemic cells.

The human genome contains about 3 billion base pairs, but only about 2 percent of these base pairs represent protein - coding genes, meaning that whole - exome sequencing measures the genetic alterations focused on a small but very important fraction of the genome (as opposed to techniques of whole genome sequencing, which measures every nucleotide across the entire genome, regardless of whether these genes are expressed or silent).

Through the combination of linkage data and exome sequencing, they have identified a deletion or loss of a single base in the gene encoding STAG3, which results in a prematurely truncated protein without function.

I work with scientists, clinicians, programmers, and data analysts to understand the genetic basis of inherited pediatric disorders through high - throughput exome and genome sequencing.

We developed a web - based variant database to enable user - defined queries and we are currently working on the development of new approaches for the optimized analysis of exome data, particularly for unsolved exome cases.

Using Illumina's TruSeq exome kit and HiSeq 2000 platform, the authors generated ~ 13.4 Gbp of data per sample, achieving 91 % of target bases covered at least 10x, with an average depth of 61x.

The expanded targeted exome sequencing - based approach described herein (Fetalis), provides strong evidence suggesting a definite and beneficial increase in our diagnostic capabilities in prenatal diagnosis of otherwise chromosomally balanced fetuses with troubling ultrasound abnormalities.

The exome sequences of 1,535 Kronos and 1,200 Cadenza mutants have been re-sequenced using Illumina next - generation sequencing, the raw data aligned to the IWGSC Chinese Spring chromosome arm survey sequence, mutations identified, and their effects predicted based on the protein annotation available at the Ensembl Plants archive site.

(A) Maximum likelihood chronogram for horses based on whole - exome sequences and rooted using the domestic donkey as an outgroup.

We have re-sequenced the exome of 1,535 Kronos and 1,200 Cadenza mutants using Illumina next - generation sequencing, aligned this raw data to the IWGSC Chinese Spring chromosome arm survey sequence, identified mutations, and predicted their effects based on the protein annotation available at Ensembl Plants.

We therefore performed two independent phylogenetic analyses based on larger subsets of the nuclear data, whole - exome sequences and all polymorphic sites, to reconstruct the most likely relationships between ancient and modern horses.

Even more astonishing are the 6 + million coding variants: depending on how you define the exome, that's about one variant every 5 or 6 base pairs in coding regions.

Notably, that GWAS was conducted using a custom high - throughput SNP array with classic GWAS variants (tag SNPs), a catalog of known protein - altering variants (exome chip) and several custom sets based on prior studies of AMD:

With exome sequencing, this was commonly done on a per - gene or per - exon basis.

We are currently working toward determining the molecular basis of these modifiers using a combination of recombinational mapping crosses and high - throughput sequencing of exome captured libraries generated from modifier strains.

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.

Can exome - based technologies uncover such forms of variation?

This is a typical diagnostic rate for clinical exome sequencing and is consistent with previous reports based on smaller cohorts.

Using exome sequences from 3222 British - Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1.45 ± 0.05 × 10 -LRB--8) per base pair per generation in autosomal coding sequence, with a corresponding non-crossover gene conversion rate of 8.75 ± 0.05 × 10 -LRB--6) per base pair per generation.

Concordant with the differences in coverage of CpG regions, the exome coverage also shows dramatic differences between platforms with a mean difference in the fraction of bases not covered of factor 6.6 between Complete Genomics at 30x and SOLiD 4 (p - value 0.006).

12/2: 45 Improved identification of the genetic basis of disease by integrated analysis of RNA - seq together with whole - genome and exome - based sequencing data.

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1.

Over the last several years, sequencing patients» protein - coding genes — known as whole - exome sequencing — has facilitated molecular diagnosis and as served as a research tool for discovering the fundamental genetic bases for over 100 Mendelian diseases.

The distribution of mutant genes was roughly consistent with expectations based on previous exome - wide sequencing studies of BCs (Cancer Genome Atlas Research Network, 2014).