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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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Hlavní autor: Ji, Hanlee P
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3334555/
https://ncbi.nlm.nih.gov/pubmed/22289516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm306
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