Open AccessA performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing
Author(s) -
Sachleen Tuteja,
Sabah Kadri,
Kai Lee Yap
Publication year - 2022
Publication title -
journal of pathology informatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.009
H-Index - 17
ISSN - 2153-3539
DOI - 10.1016/j.jpi.2022.100130
Subject(s) - annotation , ensembl , computer science , dna sequencing , exome , concordance , computational biology , exome sequencing , identification (biology) , copy number variation , genomics , data mining , genome , bioinformatics , mutation , gene , genetics , biology , artificial intelligence , botany