SMN1 copy-number and sequence variant analysis from next generation sequencing data
Daniel López-López, Carlos Loucera, Rosario Carmona, Virginia Aquino, Josefa Salgado, Sara Pasalodos, María Miranda, Ángel Alonso, Joaquı́n Dopazo
SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.
Human Mutation · Oct 14, 2020Peer-reviewedBioinformatics