Evidence map›Paper›PMID 32084225›Full record

ArticlePloS one2020

Utilization of archived neonatal dried blood spots for genome-wide genotyping.

Pagna Sok, Philip J Lupo, Melissa A Richard, Karen R Rabin, Erik A Ehli, Noah A Kallsen, Gareth E Davies, Michael E Scheurer, Austin L Brown

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07081048 (THE EFFECT OF BUZZY® AND SHOTBLOKER® APPLICATION ON THE PAIN AND COMFORT LEVEL OF NEWBORNS DURING HEEL PRICK BLOOD SAMPLING IN NEWBORNS), which is not on this map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07081048 narecruitingnot on this mapstarted 2025, after this paper: background citation

The effect of buzzy® and shotbloker® application on the pain and comfort level of newborns during heel prick blood sampling in newborns

TypeinterventionalSponsorTarsus UniversityRan2025 to 2025Enrolled159ConditionsNewbornArmsBuzzy®.Group, ShotBlocker Group
3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 13 citations in OpenAlex.

  1. Detection of AdenoviralInternational journal of molecular sciences · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Pagna SokDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.ORCID 0000-0001-8210-4580
Philip J LupoDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.ORCID 0000-0003-0978-5863
Melissa A RichardDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.
Karen R RabinDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.
Erik A EhliAvera Institute for Human Genetics, Sioux Falls, South Dakota, United States of America.ORCID 0000-0002-7865-3015
Noah A KallsenAvera Institute for Human Genetics, Sioux Falls, South Dakota, United States of America.
Gareth E DaviesAvera Institute for Human Genetics, Sioux Falls, South Dakota, United States of America.
Michael E ScheurerDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.
Austin L BrownDepartment of Pediatrics, Hematology-Oncology Section, Baylor College of Medicine, Houston, Texas, United States of America.
Baylor College of Medicine · USAvera Health · US

Funding

Integrative Molecular Epidemiology of Neurocognitive Outcomes in Acute Lymphoblastic LeukemiaK07CA218362 · NCI · BAYLOR COLLEGE OF MEDICINE · PI BROWN, AUSTIN L · 2018 to 2022
$758k
NCI NIH HHS K07 CA218362
6 · The paper itself

Abstract

introductionHeel pricks are performed on newborns for diagnostic screenings of various pre-symptomatic metabolic and genetic diseases. Excess blood is spotted on Guthrie cards and archived by many states in biobanks for follow-up diagnoses and public health research. However, storage environment may vary across biobanks and across time within biobanks. With increased applications of DNA extracted from spots for genetic studies, identifying factors associated with genotyping success is critical to maximize DNA quality for future studies.

methodWe evaluated 399 blood spots, which were part of a genome-wide association study of childhood leukemia risk in children with Down syndrome, archived at the Michigan Neonatal Biobank between 1992 and 2008. High quality DNA was defined as having post-quality control call rate ≥ 99.0% based on the Illumina GenomeStudio 2.0 GenCall algorithm after processing the samples on the Illumina Infinium Global Screening Array. Bivariate analyses and multivariable logistic regression models were applied to evaluate effects of storage environment and storage duration on DNA genotyping quality.

resultsBoth storage environment and duration were associated with sample genotyping call rates (p-values < 0.001). Sample call rates were associated with storage duration independent of storage environment (p-trend = 0.006 for DBS archived in an uncontrolled environment and p-trend = 0.002 in a controlled environment). However, 95% of the total sample had high genotyping quality with a call rate ≥ 95.0%, a standard threshold for acceptable sample quality in many genetic studies.

conclusionBlood spot DNA quality was lower in samples archived in uncontrolled storage environments and for samples archived for longer durations. Still, regardless of storage environment or duration, neonatal biobanks including the Michigan Neonatal Biobanks can provide access to large collections of spots with DNA quality acceptable for most genotyping studies.

Indexed as

Genome, HumanDNADried Blood Spot TestingFemaleGenome-Wide Association StudyGenotypeHumansInfant, NewbornLeukemiaMaleNeonatal ScreeningPolymorphism, Single NucleotideSpecimen HandlingDNA

Identifiers

PMID32084225
PMCPMC7034898
OpenAlexW3007446949

What OpenQuestion holds

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LicenceCC BY
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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.