GenomicsbioRxivPreprint
Whole Exome Sequencing in Neurogenetic Diagnostic Odysseys: An Argentinian Experience
M Córdoba, SA Rodriguez-Quiroga, PA Vega…·MA Kauffman
This paper reports on the diagnostic utility of whole exome sequencing in 40 neurogenetic cases from Argentina, achieving a 40% diagnostic yield and suggesting cost-effectiveness.
DOI 10.1101/060319