VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

BACKGROUND: Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both for diagnostics and research purposes. Due to very rapid technological progress, NGS laboratories are expanding their capabilities to address the incr...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:BMC Bioinformatics
Asıl Yazarlar: Musacchia, F., Ciolfi, A., Mutarelli, M., Bruselles, A., Castello, R., Pinelli, M., Basu, S., Banfi, S., Casari, G., Tartaglia, M., Nigro, V.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Software
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6291943/
https://ncbi.nlm.nih.gov/pubmed/30541431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2532-4
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller