Improving bioinformatic pipelines for exome variant calling

Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bio...

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Bibliographic Details
Main Author: Ji, Hanlee P
Format: Online
Language:English
Published: BioMed Central 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334555/