Article
Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.
Archives of pathology & laboratory medicine - 1 Mar 2013
Coonrod Emily M, Durtschi Jacob D, Margraf Rebecca L, Voelkerding Karl V
Abstract excerpt
CONTEXT: Advances in sequencing technology with the commercialization of next-generation sequencing (NGS) has substantially increased the feasibility of sequencing human genomes and exomes. Next-generation sequencing has been successfully applied to the discovery of disease-causing genes in rare, inherited disorders. By necessity, the advent of NGS has fostered the concurrent development of bioinformatics...
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