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Next Gen Exome Sequencing Reveals Mutations in a Rare Recessive Disorder

โœ Scribed by Graham R. Taylor


Book ID
102259644
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
69 KB
Volume
31
Category
Article
ISSN
1059-7794

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Protein coding genes constitute approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute our understandi