exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challe...

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Autori principali: Maranhao, B., Biswas, P., Duncan, J.L., Branham, K.E., Silva, G.A., Naeem, M.A., Khan, S.N., Riazuddin, S., Hejtmancik, J.F., Heckenlively, J.R., Riazuddin, S.A., Lee, P.L., Ayyagari, R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4146529/
https://ncbi.nlm.nih.gov/pubmed/24603341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2014.02.006
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