Ontology highlight
ABSTRACT:
SUBMITTER: Jobanputra V
PROVIDER: S-EPMC7722526 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Jobanputra Vaidehi V Andrews Peter P Felice Vanessa V Abhyankar Avinash A Kozon Lukasz L Robinson Dino D London Ferrah F Hakker Inessa I Wrzeszczynski Kazimierz K Ronemus Michael M
The Journal of molecular diagnostics : JMD 20201023 12
Chromosomal microarray testing is indicated for patients with diagnoses including unexplained developmental delay or intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The short multiply aggregated sequence homologies (SMASH) genomic assay is a novel next-generation sequencing technology that performs copy number analysis at resolution similar to high-coverage whole genome sequencing but requires far less capacity. We benchmarked the performance of SMASH on a ...[more]