Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was...
RNA sequencingNUCLEOTIDE sequencingNEUROMUSCULAR diseasesGENETIC variationDIAGNOSISMOLECULAR diagnosisObjective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide...
Exome sequencing of Canadian wheat cultivars was supported through the Canadian Triticum Applied Genomics grant funded by Genome Canada, Genome Prairie, Saskatchewan Ministry of Agriculture, and the Western Grains Research Foundation. P.L.M. was supported by grant IOS-1339393 from the US National ...
Folders and files Name Last commit message Last commit date Latest commit History 228 Commits .circleci Singularity Dockerfile LICENSE README.md WESpipeline.png WESpipeline.svg alignment.nf dag.html dag.png deploy.sh environment.yml nextflow.config ...
Species specific exome probes reveal new insights in positively selected genes in nonhuman primates Article Open access 23 September 2016 Background Rhesus macaque (Macaca mulatta) and human shared a most recent common ancestor about 25 million years ago [1] and their genome sequences share 93.5...
Rare diseases can individually be difficult to diagnose due to the low incidence and the incomplete penetrance of implicated alleles. However, variant analysis of whole-genome sequencing (WGS) or whole-exome sequencing data can lead to the discovery of underlying genetic mutations [3]. Identifying ...
We therefore performed whole-exome and targeted deep sequencing, SNP array, DNA methylation array, and RNA sequencing on a cohort of 233 patients with pediatric germ cell tumors (GCTs; Table S4), and conducted an integrated analysis of the data analyzed (Xu and Amatruda, unpublished data). ...
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015;24(8):2125–37. Article CAS PubMed Google Scholar Carter H, Douville C, Stenson PD, Cooper DN, Karchin R. Identifying Mendelian disease genes with the...
Mutation recovery was conducted by whole-exome capture using SureSelect Mouse All Exon kit V1, with sequencing carried out using Illumina HiSeq 2000 with minimum 50X average coverage (BGI Americas). Sequence reads were aligned to the C57BL/6 J mouse reference genome (mm9) and analyzed using ...
SMA Finder has been tested on over 30,000 exome, genome, and panel sequencing samples from CMG/GREGoR rare disease cohorts as well as 200,000 exomes and genomes from the UK Biobank (UKBB). In these tests, SMA Finder's false positive rate was less than 1 in 200,000, its true positive...