Original paper
Analysis of archived residual newborn screening blood spots after whole genome amplification
Abstract
Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material, can be overcome. For instance, genomic analysis of NBS could be used to define allele frequencies of disease-associated variants in local populations, or to conduct prospective or retrospective...
Paper Details
Title
Analysis of archived residual newborn screening blood spots after whole genome amplification
Published Date
Aug 13, 2015
Journal
Volume
16
Issue
1
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Notes
History