Article
Analysis of archived residual newborn screening blood spots after whole genome amplification.
BMC genomics - 13 Aug 2015
Cantarel Brandi L, Lei Yunping, Weaver Daniel, Zhu Huiping, Farrell Andrew, Benstead-Hume Graeme, Reese Justin, Finnell Richard H
Abstract excerpt
BACKGROUND: 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,...
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