Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles

Abstract Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profile...

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Bibliographic Details
Published in:Human molecular genetics 2021-01, Vol.29 (21), p.3465-3476
Main Authors: Laufer, Benjamin I, Hwang, Hyeyeon, Jianu, Julia M, Mordaunt, Charles E, Korf, Ian F, Hertz-Picciotto, Irva, LaSalle, Janine M
Format: Article
Language:English
Subjects:
Biomarkers - blood
Case-Control Studies
Core Binding Factor Alpha 2 Subunit - genetics
CpG Islands
DNA Methylation
Down Syndrome - diagnosis
Down Syndrome - genetics
Dried Blood Spot Testing - methods
Epigenesis, Genetic
Female
Follow-Up Studies
Gene Expression Regulation
Genome, Human
Humans
Infant, Newborn
Male
Prognosis
Retrospective Studies
Sulfites - chemistry
Whole Genome Sequencing
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Summary:Abstract Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example of genetics shaping epigenetics, as multiple array-based studies have demonstrated that trisomy 21 is characterized by genome-wide alterations to DNA methylation. By assaying over 24 million CpG sites, thousands of genome-wide significant (q 
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddaa218