A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information

ConclusionsThe application of the pipeline will contribute to supporting the interpretation of pathogenicity of human mitochondrial variants by facilitating diagnosis to clinicians and researchers faced with this task.

Source: Molecular Genetics & Genomic Medicine - December 9, 2019 Category: Genetics & Stem Cells Authors: Ornella Vitale, Roberto Preste, Donato Palmisano, Marcella Attimonelli Tags: ORIGINAL ARTICLE Source Type: research