Whole-exome sequencing (WES) has become the strategy of choice to identify causal variants in monogenic disorders. However, the list of candidate variants can be quite large, including false positives generated by sequencing errors. To reduce this list of candidate variants to the most relevant ...
Whole exome sequencing is a powerful tool to investigate genetic variations underlying cancers, Mendelian diseases, and complex human disorders.
“With whole-exome sequencing there is less data to transfer, analyze, and interpret, which is an important consideration, and it’s more cost-effective with a faster turnaround time.”–Dr. Christian Marshall, Research Associate, The Hospital for Sick Chil...
To identify these variants, a whole genome sequencing approach will be more suited to your needs. Whole Genome Sequencing is able to produce large volumes of genetic data while Whole Exome Sequencing only covers 2% of the genome but contains approximately 85% of known diseases-related variants1....
Exome sequencing is a fast and affordable alternative to using whole genome sequencing for your research, allowing you to identify somatic and germline genetic variants within coding regions of genes without the additional expense and data analysis challenges associated with whole genome ...
全外显子测序(Whole Exome Sequencing,WES) 标准分析流程 全外显子测序的标准分析流程通常包括以下步骤: 质量控制(Quality Control,QC) 对原始测序数据进行质量控制,包括去除低质量的序列片段、过滤掉低质量的碱基和低覆盖度的测序片段等。 读取比对(Read Alignment) 将过滤后的测序数据比对到参考基因组上,以确定每...
How to cite this article: Tombácz, D.et al. Whole-Exome Sequencing Data of Suicide Victims who had Suffered from Major Depressive Disorder.Sci. Data. 6:190010 https://doi.org/10.1038/sdata.2019.10 (2019). Publisher’s note: Springer Nature remains neutral with regard to jurisdictional clai...
Overall, we calculated PRS for habitual coffee consumption and identified novel rare pathogenic variations in habitual coffee consumption using whole exome sequencing data from UK Biobank. The genes identified in this study were associated with the olfactory receptor, hyperphagia, and the nervous system...
The sheer volume of data generated from whole exome sequencing and whole genome sequencing presents a challenge for many researchers faced with the prospect of assembling and analyzing it. Whether you are working with whole genome, whole exome, or other targeted sequencing data, the resulting ...
We analyzed whole-exome (WES) and whole-genome sequencing (WGS) data of 481 and 474 individuals with type 1 diabetes, respectively. The phenotypic data consisted of 79 serum lipid and apolipoprotein phenotypes obtained with clinical laboratory measurements and nuclear magnetic resonance spectroscopy. ...