Performance of whole-exome sequencing Sequencing depth and coverage of targeted regions were calculated using Samtools' 0.1.19 bamcheck (v2012-09-04, http://samtools.sourceforge.net). We collected high-coverage exon-capture data for 193 samples with a median of 99.9 (range, 71.6–170.1) ...
OPEN Citation: Transl Psychiatry (2017) 7, e1034; doi:10.1038/tp.2017.3 www.nature.com/tp ORIGINAL ARTICLE Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder F Lescai1,2,3, TD Als1,2,3, Q Li4, M Nyegaard1,2,3, G And...
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the rema
For the Exome_Fine Array data, the comparisons were based on 15,620 and 22,458 overlapping variants within 348 and 159 individuals, respectively. The concordance rates were 99.964 and 99.986% for the whole-exome sequencing data and the Illumina Human610-Quad BeadChip data, respectively. More...
(i.e., Sanger sequencing, genotyping arrays, exome sequencing) have progressively allowed us to solve monogenic forms of dyslipidemia and to uncover common DNA sequence variants as well as rare mutations that contribute to plasma lipid levels in the population. However, due to the inherent ...
Copy number and genotype annotation from whole genome and whole exome sequencing data. Complete tutorial on how to run FREEC:http://boevalab.inf.ethz.ch/FREEC/tutorial.html Control-FREEC is a tool for detection of copy-number changes and allelic imbalances (including LOH) using deep-sequencing...
README Code of conduct GPL-3.0 license ichorCNA ichorCNA is a tool for estimating the fraction of tumor in cell-free DNA from ultra-low-pass whole genome sequencing (ULP-WGS, 0.1x coverage). ichorCNA Wiki Page For more details on usage/pipelines, outputs, and FAQs, please visit theGitHub ...
As innovation and development of sequencing technologies have driven prices down and throughput up, projects have been transitioning from exome to whole-genome sequencing (WGS) of tumour and matched germline samples, supplemented by transcript and methylation analyses when possible, facilitating the ...
sequencing cost is to use whole-exome sequencing (WES), in which only a small fraction of the genome is sequenced, but at high coverage (i.e., high average number of sequence reads for a given base pair) [4,5]. A second approach is to perform WGS, but reduce the overall coverage....
Trios (or parent–offspring pairs for incomplete trios) were selected starting from the founders of all available families to assure the representation of all haplotypes that have been propagated within families (using ExomePicks, http://genome.sph.umich.edu/ wiki/ExomePicks). For the Sardinians...