Limitations of whole exome sequencing in the diagnosis of genetic diseasesdoi:10.1007/s42451-018-0046-yJ. PrasuhnUniversität zu Lübeck, Campus LübeckK. LohmannUniversität zu Lübeck, Campus LübeckH. HanßenUniversität zu Lübeck, Campus LübeckA. Münchau...
The study screened a cohort of patients (n = 167) with primary male infertility in contrast to 210 normally fertile men using whole exome sequencing (WES). The expression analysis of the candidate genes based on public single cell sequencing data was performed using the R language Seurat ...
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa Xiangyu Ma1*, Liping Guan2*, Wei Wu3, Yao Zhang1, Wei Zheng4, Yu-Tang Gao5, Jirong Long4, Na Wu1, Long Wu1, Ying Xiang1, Bin Xu1, Miaozhong Shen2, Yanhua Chen2, Yuewen Wang2...
The current study has several limitations as follows: 1. The screening method lacks the positive controls (for example, robust ASD-associated genes such as CHD8 and MEPC2) and negative controls (for example, genes with de novo loss-of-function mutations in healthy siblings in previously ...
Therefore, using whole-exome and whole-genome sequencing (WES and WGS, respectively), we aimed to identify novel PAVs and protein-truncating variants (PTVs, as putative loss-of-function variants) affecting serum lipid and lipoprotein measurements, complemented with serum nuclear magnetic resonance (...
Whole-exome sequencing was not considered part of the standard diagnostic workup. A first-tier test was defined as the first diagnostic test usually used when a patient without a diagnosis visits the hospital. Time Horizon, Currency, Discount Rate, and Threshold Within our Markov simulation, the...
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...
Without public funding for genomic testing in most countries, diagnostic yields are balanced against budgetary limitations. The impact of coding variation on gene function identified through whole exome sequencing (WES) and WGS is well understood. The advantages of WGS for improving diagnostic yield ...
Whole-exome sequencing (WES) has been utilized in pediatric and adult clinical practice to identify the underlying genetic cause of disease when prior testing has failed to provide a diagnosis. WES is increasingly considered as a first- tier molecular test with increased diagnostic and clinical ...
basal cell nevus syndrome; Gorlin syndrome; whole-exome sequencing; multiplex ligation-dependent probe amplification; missing heritability1. Introduction Basal cell nevus syndrome (BCNS, OMIM 109400), also referred to as nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin ...