ArticleBMC genetics2011
Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source.
Article in BMC genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Postpartum and non-postpartum depression: a population-based matched case-control study comparing polygenic risk scores for severe mental disorders.Translational psychiatry · 2023Pooled it
- Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.Nature medicine · 2023Pooled it
- Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder.Nature communications · 2021Pooled it
- Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation.Research square · 2025Article
- Impact of genetic, sociodemographic, and clinical features on antidepressant treatment trajectories in the perinatal period.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2024Article
- Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs.medRxiv : the preprint server for health sciences · 2023Article
- Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.NPJ genomic medicine · 2023Article
- Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study.The lancet. Psychiatry · 2023Article
- Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.International journal of neonatal screening · 2022Review
- Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.Nature genetics · 2022Article
- Preserving avian blood and DNA sampled in the wild: A survey of personal experiences.Ecology and evolution · 2022Article
- Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors.Nature communications · 2021Article
- FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses.Nature communications · 2020Article
- Genetic liability to major depression and risk of childhood asthma.Brain, behavior, and immunity · 2020Article
- A genome-wide association study on medulloblastoma.Journal of neuro-oncology · 2020Article
- Article
- Comparison between different methods of DNA isolation from dried blood spots for determination of malaria to determine specificity and cost effectiveness.Journal of parasitic diseases : official organ of the Indian Society for Parasitology · 2019Review
- Genome-wide association study implicates CHRNA2 in cannabis use disorder.Nature neuroscience · 2019Article
- Identification of common genetic risk variants for autism spectrum disorder.Nature genetics · 2019Article
- Exploring DNA quality of single cells for genome analysis with simultaneous whole-genome amplification.Scientific reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined with clinical information from medical registries, DBS samples could provide a rich source for productive research. However, the amounts of DNA which can be extracted from these precious samples are minute and may be prohibitive for numerous genotypings. Previously, we demonstrated that DBS DNA can be whole-genome amplified and used for reliable genetic analysis on different platforms, including genome-wide scanning arrays. However, it remains unclear whether this approach is workable on a large sample scale. We examined the robustness of using DBS samples for whole-genome amplification following genome-wide scanning, using arrays from Illumina and Affymetrix.
resultsThis study is based on 4,641 DBS samples from the Danish Newborn Screening Biobank, extracted for three separate genome-wide association studies. The amount of amplified DNA was significantly (P < 0.05) affected by the year of storage and storage conditions. Nine (0.2%) DBS samples failed whole-genome amplification. A total of 4,586 (98.8%) samples met our criterion of success of a genetic call-rate above 97%. The three studies used different arrays, with mean genotyping call-rates of 99.385% (Illumina Infinium Human610-Quad), 99.722% (Illumina Infinium HD HumanOmni1-Quad), and 99.206% (Affymetrix Axiom Genome-Wide CEU). We observed a concordance rate of 99.997% in the 38 methodological replications, and 99.999% in the 27 technical replications. Handling variables such as time of storage, storage conditions and type of filter paper were shown too significantly (P < 0.05) affect the genotype call-rates in some of the arrays, although the effect was minimal.
conclusionOur study indicates that archived DBS samples from the Danish Newborn Screening Biobank represent a reliable resource of DNA for whole-genome amplification and subsequent genome-wide association studies. With call-rates equivalent to high quality DNA samples, our results point to new opportunities for using the neonatal biobanks available worldwide in the hunt for genetic components of disease.
Indexed as
Identifiers
What OpenQuestion holds
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.