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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...
Autores principales: | Mortensen, Ólavur, Lydersen, Leivur Nattestad, Apol, Katrin Didriksen, Andorsdóttir, Guðrið, Steig, Bjarni á, Gregersen, Noomi Oddmarsdóttir |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777531/ https://www.ncbi.nlm.nih.gov/pubmed/30765883 http://dx.doi.org/10.1038/s41431-019-0343-3 |
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