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 s...
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic re...
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 ...
Whole exome sequencing of 251 individuals from 97 NPC families led to the identification of numerous rare variants possibly linked to NPC, including variants within genes involved in Notch signaling (NOTCH1, DLL3), magnesium transport (NIPAL1), EBV entry into epithelial cells (ITGB6), modulation...
The Introduction of Whole Genome Sequencing Whole genome sequencing represents the determination of the complete DNA sequence of an organism's genome at a single time, which entails chromosomal DNA as well as DNA contained in mitochondria and chloroplasts. Whole genome sequencing provides a powerful to...
ARTICLE Received 1 Aug 2014 | Accepted 20 Feb 2015 | Published 15 Apr 2015 DOI: 10.1038/ncomms7687 Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations Lv-Zhen Huang1,2,3,*, Ying-Jie Li4,*, Xue-Feng Xie5,*, Jing-Jing Zhang1,2,3,*,...
Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease Author links open overlay panelHifaa A. Bokhari a 1, Noor Ahmad Shaik a b 1, Babajan Banaganapalli a b 1, Khalidah Khalid Nasser b g, Hossain Ibrahim ...
E. Applications of long-read sequencing to Mendelian genetics. Genome Med 15, 42 (2023). Article PubMed PubMed Central Google Scholar Sallevelt, S. et al. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. ...
Whole exome sequencing workflows usingSNP & Variation Suite(SVS) was presented in a recentwebcast, by Dr. Robert Hamilton from the Hospital for Sick Kids. In particular, he performed some filtering on his data to look for only heterozygous variants in his sample of interest, removed variants ...
Whole-exome sequencing (WES) is a cost-effective and powerful tool for the analysis of complex and rare genetic diseases10. WES technique allows a base-pair comparison of exomes and consequently the examination of rare genetic variants, which may play a role in suicide. Alterations in copy num...