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Using dried blood spot samples from a trio for linked-read whole-exome sequencing

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...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Mortensen, Ólavur, Lydersen, Leivur Nattestad, Apol, Katrin Didriksen, Andorsdóttir, Guðrið, Steig, Bjarni á, Gregersen, Noomi Oddmarsdóttir
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777531/
https://ncbi.nlm.nih.gov/pubmed/30765883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0343-3
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