Exome Sequencing and Data AnalysisWhitepaper | Scigenom.com
Case study: Whole-exome sequencing for research in complex pediatric-onset 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 turna...
It is essential to minimize the number of candidate variants to reduce the heaviness of the Sanger sequencing validation step. For this reason, many studies have combined WES filtering with a multipoint linkage analysis performed with microsatellites or SNP chip data. Multipoint linkage analysis, ...
Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours. To examine this potential, here we evaluate the ability of state-of-the-art sequence analysis...
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. ...
Exome sequencing (exome-seq) has aided in the discovery of a huge amount of mutations in cancers, yet challenges remain in converting oncogenomics data into information that is interpretable and accessible for clinical care. We constructed DriverDB (http://ngs.ym.edu.tw/driverdb/), a databa...
Whole-exome sequencing for research:全基因组测序的研究测序,研究,whole,for,全基因组,Exome,组测序,基因组,Whole,测序的 文档格式: .pdf 文档大小: 564.32K 文档页数: 3页 顶/踩数: 0/0 收藏人数: 0 评论次数: 0 文档热度: 文档分类: 论文--毕业论文 ...
Although exome sequencing data are generated primarily to detect single-nucleotide variants and indels, they can also be used to identify a subset of genomic rearrangements whose breakpoints are located in or near exons. Using >4,600 tumor and normal pairs across 15 cancer types, we identified ...
Sequencing & analysis IDT ALIGN℠Program Method data Library preparation and hybridization capture To assess the xGen Exome Hyb Panel v2, twelve libraries were prepared using 100 ng of human genomic DNA (Coriell Institute). Then, xGen Stubby Adapters and Unique Dual Indexing primers (UDIs) were...
www.nature.com/scientificreports OPEN received: 21 August 2015 accepted: 14 December 2015 Published: 20 January 2016 Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population Yanan Di1,2,3,7,*, Lulin Huang2,3,7,*, Periasamy...