Ontology highlight
ABSTRACT:
SUBMITTER: Harvey WT
PROVIDER: S-EPMC10760522 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Harvey William T WT Ebert Peter P Ebler Jana J Audano Peter A PA Munson Katherine M KM Hoekzema Kendra K Porubsky David D Beck Christine R CR Marschall Tobias T Garimella Kiran K Eichler Evan E EE
Genome research 20231227 12
Advances in long-read sequencing (LRS) technologies continue to make whole-genome sequencing more complete, affordable, and accurate. LRS provides significant advantages over short-read sequencing approaches, including phased de novo genome assembly, access to previously excluded genomic regions, and discovery of more complex structural variants (SVs) associated with disease. Limitations remain with respect to cost, scalability, and platform-dependent read accuracy and the tradeoffs between sequ ...[more]