Targeted enrichment sequencing by Next Generation Sequencing (NGS) is a common approach to interrogate specific loci or the whole exome in the human genome. The efficiency and the lack of bias in the enrichment process needs to be assessed as a quality control step prior to perform downstream analysis of the sequence data. Tools that […]
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Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and provide an unprecedented opportunity to identify candidate causative variants that lead to disease phenotypes. A challenge to these studies is the generation of sequencing artifacts by current technologies. To identify and characterize the properties that […]
Exome analysis using next generation sequencing (DNASeq) Aims: This one day course is designed for scientists and clinicians with little or no experience in exome sequencing. The course aims to provide the experimental and bioinformatics skills required to prepare samples, undertake exome sequencing and the subsequent identification of single nucleotide variations (SNVs) and short Insertions/Deletions (Indels). The course […]
from GenomeWeb by a staff reporter NEW YORK (GenomeWeb News) – A pair of exome sequencing studies searching for the genetic basis of two similar pediatric syndromes homed in on an overlapping set of variants affecting the same gene. The two studies, one from a team of Israeli researchers and one from a group at […]
bioteXcel’s third Next Generation Sequencing event, entitled Exomes, Genomes & Transcriptomes In Clinical Diagnostics (NGS 2014 Dundee) will include talks and workshops devoted to the advances in NGS applications important to human disease. It will take place on 7th & 8th May 2014 at the Hannah Maclure Centre, Abertay University, Dundee, Scotland, UK. This event […]
The adoption of next-generation sequencing (NGS) has revolutionized medical research by allowing scientists to quickly and accurately sequence and assemble millions of DNA base reads in an effort to decode the human genome. The technology is being touted as the fastest-growing segment of the $7B genomics market, and its routine adoption in basic science and […]