VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
Work
Year: 2018
Type: article
Abstract: 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 techn... more
Source: BMC Bioinformatics
Authors Francesco Musacchia, Andrea Ciolfi, Margherita Mutarelli, Alessandro Bruselles, Raffaele Castello +6 more
Institutions Telethon Institute Of Genetics And Medicine, Bambino Gesù Children's Hospital, Istituto Superiore di Sanità , University of Gothenburg, University of Campania "Luigi Vanvitelli"
Cites: 37
Cited by: 32
Related to: 10
FWCI: 2.542
Citation percentile (by year/subfield): 80.16
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
APC paid (est): $2,072
Funder Fondazione Telethon
Grant ID GSP15001