Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness this resource in such studies, DBS must yield high-quality genomic DNA (gDNA) for whole ge...

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Bibliographic Details
Published in:Npj genomic medicine 2023-02, Vol.8 (1), p.5-5, Article 5
Main Authors: Ding, Yan, Owen, Mallory, Le, Jennie, Batalov, Sergey, Chau, Kevin, Kwon, Yong Hyun, Van Der Kraan, Lucita, Bezares-Orin, Zaira, Zhu, Zhanyang, Veeraraghavan, Narayanan, Nahas, Shareef, Bainbridge, Matthew, Gleeson, Joe, Baer, Rebecca J., Bandoli, Gretchen, Chambers, Christina, Kingsmore, Stephen F.
Format: Article
Language:English
Subjects:
631/1647/1513
631/208/1516
631/208/212
631/61/212/2301
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Gene Function
Gene Therapy
Genomes
Genomics
Human Genetics
Internal Medicine
Medical screening
Polymerase chain reaction
Population studies
Public health
Quality control
Whole genome sequencing
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Summary:Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness this resource in such studies, DBS must yield high-quality genomic DNA (gDNA) for whole genome sequencing (WGS). In this pilot study, we hypothesized that gDNA of sufficient quality and quantity for WGS could be extracted from archived DBS up to 20 years old without PCR (Polymerase Chain Reaction) amplification. We describe simple methods for gDNA extraction and WGS library preparation from several types of DBS. We tested these methods in DBS from 25 individuals who had previously undergone diagnostic, clinical WGS and 29 randomly selected DBS cards collected for NBS from the California State Biobank. While gDNA from DBS had significantly less yield than from EDTA blood from the same individuals, it was of sufficient quality and quantity for WGS without PCR. All samples DBS yielded WGS that met quality control metrics for high-confidence variant calling. Twenty-eight variants of various types that had been reported clinically in 19 samples were recapitulated in WGS from DBS. There were no significant effects of age or paper type on WGS quality. Archived DBS appear to be a suitable sample type for WGS in population genomic studies.
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-023-00349-w