Ontology highlight
ABSTRACT:
SUBMITTER: Miressi F
PROVIDER: S-EPMC7424167 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Computational and structural biotechnology journal 20200802
Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Variants (SNVs) or small indels. Structural Variants (SVs) are often underdiagnosed in inherited genetic diseases, probably because few user-friendly tools are available for biologists or geneticists to identify them easily. We present here the diagnosis ...[more]