WES: Whole-exome sequencing WGS: Whole-genome sequencing References Naghavi M, Abajobir AA, Abbafati C, Abbas KM, Abd-Allah F, Abera SF, et al. Global, regional, and national age-sex specific mortality for 264 causes of death, 1980–2016: a systematic analysis for the Global Burden ...
Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array鈥擟omparative Genomic...
Whole-exome sequencing focuses on what is thought to be the most medically relevant part of the human genome, as this reduces the overhead of both the molecular and analytical aspects. This approach has been broadly applied to identifying the genes that underlie rare disorders. In only the pas...
Exome capture, sequencing, and bioinformatic analysis Picard MarkDuplicates software estimated rates of PCR duplication to be very high, ranging from 83.3 to 96.7% of uniquely aligned reads (Supplementary Table S1). As a result, coverage of targeted bases following duplicate removal was very low (...
Since a minor allele frequency (MAF) of 1% or more is the conventional definition of polymorphism84, thus we considered a MAF < 1% as ‘rare variation’. We tested whether any of the genes identified by exome sequencing had statistical evidence of association with SLE in the general Eur...
Whole Exome Sequencing Whole Faith International Bible College whole fam damily Whole Family Financial Services whole farm approach Whole Farm Insurance Program whole farm program whole farm program whole farm program whole farm program Whole Farm Revenue Program ...
Define whole cloth. whole cloth synonyms, whole cloth pronunciation, whole cloth translation, English dictionary definition of whole cloth. n. Pure fabrication or fiction: "His account of being drugged, kidnapped and tortured was made up of whole cloth"
PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments....
genetic study of this disorder. With the advance of high-throughput sequencing technologies, whole-genome sequencing (WGS) or whole-exome sequencing (WES), especially disease family-based WGS or WES, provides an elegant platform to seek rare susceptibility or pathogenic variants16,17,18. Such ...
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,*,...