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Whole Exome Sequencing

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 Product Introduction 
Whole Exome sequencing is especially effective in the study of rare Mendelian disorders, complex disease, cancer research or human population studies, because it is the most efficient way to identify the genetic variants in all of an individual's genes. These diseases are most often caused by very rare genetic variants that are only present in a tiny number of individuals. Furthermore, because severe disease causing variants are much more likely (but by no means exclusively) to be in the protein coding sequence, focusing on this 1% costs far less than whole genome sequencing but still produces a high yield of relevant variants.
Exome sequencing is now increasingly used to find mutations in genes already known to cause disease as well as to identify novel genes by comparing exomes from patients with similar features.
MyGenostics provides a comprehensive solution for whole exome sequencing using our Independent research and development of  GencapTM capture technology. We offer different species of the whole exome capture kits, including human (52M), goat (30M). 

Project Workflow

Exome Capture
MyGenostics GencapTM  Human whole Exon Kit(52M).

Sequencing Strategy
180~280 bp insert DNA library
HiSeq platform, paired-end 150 bp

Sequencing Depth
For Mendelian disorder are disease effective sequencing depth above 50×
For tumor sample: effective sequencing depth above 100×

Data Analysis
SNP and Indel calls
Advanced analysis including annotations, normal-tumor pair, Mendelian disorder, complex disease and trio analysis available
Custom population scale and case-control analysis available

Sample Requirements
Input DNA:
For fresh sample: ≥ 1.0 ug (a minimum of 200 ng can be accepted with risk)
For FFPE sample: ≥ 1.5 ug
DNA concentration: ≥ 20 ng/ul
DNA Volume: ≥ 10 ul
OD260/280 = 1.8 - 2.0 without degradation or RNA contamination

Turnaround Time
30 working days after verification of sample quality (without data analysis)
Additional 5 working days for data analysis