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 (ES) became the next step in the evolution of genome-wide testing, using next-generation sequencing (NGS) technologies to focus on the coding portions of the genome, in which over 95% of disease-causing variants have been estimated to be located [52]. From both a clinical...
Although there have now been thousands of DLBCL tumours analysed using targeted strategies such as array-based copy number analysis9or whole exome sequencing (WES)10, a limited number of complete DLBCL genomes have been described to date11,12,13. Nonetheless, further analysis of DLBCL using whole...
sequencing (WGS) is becoming the preferred method for genetic analysis over alternative methods such as panel and exome sequencing. Firstly, WGS detects more variants not only in the large noncoding parts of the genome but also in exons due to a superior mapping quality [31,36,37]. Secondly...
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...
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 ...
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...
Human leukocyte antigen (HLA) class I and II alleles were predicted using the HLAscan algorithm38. HLAscan was developed to identify HLA types using the following next-generation sequencing data: whole-genome, exome, and targeted sequence data. In this study, each preprocessed BAM file was used...
Exome sequencing identifies genes associated with sleep-related traits Article04 January 2024 Polygenic predisposition, sleep duration, and depression: evidence from a prospective population-based cohort ArticleOpen access20 October 2023 Mendelian randomization and colocalization analyses reveal an association ...