High-throughput discovery of rare insertions and deletions in large cohorts

Pooled-DNA sequencing strategies enable fast, accurate, and cost-effect detection of rare variants, but current approaches are not able to accurately identify short insertions and deletions (indels), despite their pivotal role in genetic disease. Furthermore, the sensitivity and specificity of these...

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Bibliographic Details
Main Authors: Vallania, Francesco L.M., Druley, Todd E., Ramos, Enrique, Wang, Jue, Borecki, Ingrid, Province, Michael, Mitra, Robi D.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2010
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Method
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2989997/
https://ncbi.nlm.nih.gov/pubmed/21041413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.109157.110
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