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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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Dades bibliogràfiques
Autor principal: Ji, Hanlee P
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Accés en línia: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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