Ontology highlight
ABSTRACT:
SUBMITTER: Mortensen O
PROVIDER: S-EPMC6777531 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Mortensen Ólavur Ó Lydersen Leivur Nattestad LN Apol Katrin Didriksen KD Andorsdóttir Guðrið G Steig Bjarni Á BÁ Gregersen Noomi Oddmarsdóttir NO
European journal of human genetics : EJHG 20190214 6
Long-term collection of dried blood spot (DBS) samples through newborn screening may have retrospective and prospective advantages, especially in combination with advanced analytical techniques. This work concerns whether linked-reads may overcome some of the limitations of short-read sequencing of DBS samples, such as performing molecular phasing. We performed whole-exome sequencing of DNA extracted from DBS and corresponding whole blood (WB) reference samples, belonging to a trio with unaffect ...[more]