Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.

Molecular genetics and metabolism - 1 Jan 2000

Hollegaard Mads Vilhelm, Grauholm Jonas, Nielsen Ronni, Grove Jakob, Mandrup Susanne, Hougaard David Michael

Abstract excerpt

Dried blood spot samples (DBSS) have been collected and stored for decades as part of newborn screening programmes worldwide. Representing almost an entire population under a certain age and collected with virtually no bias, the Newborn Screening Biobanks are of immense value in medical studies, for example, to examine the genetics of various disorders. We have previously demonstrated that DNA extracted from a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biological Specimen Banks
Share to Dried Blood Spot Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genome, Human

Share to High-Throughput Nucleotide Sequencing

Share to Infant, Newborn

Share to Neonatal Screening

Share to Specimen Handling

Source

Identifiers

PMID: 23830478
DOI: 10.1016/j.ymgme.2013.06.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.PMID 23830478Read ↗

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.Semantic proximity Read ↗

Genome-wide scans using archived neonatal dried blood spot samples.Semantic proximity Read ↗

High-throughput genotyping on archived dried blood spot samples.Semantic proximity Read ↗

Genotyping whole-genome-amplified DNA from 3- to 25-year-old neonatal dried blood spot samples with reference to fresh genomic DNA.Semantic proximity Read ↗

Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source.Semantic proximity Read ↗

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spotsSemantic proximity Read ↗

DNA from dried blood spots yields high quality sequences for exome analysisSemantic proximity Read ↗

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spotsSemantic proximity Read ↗

DNA methylome profiling using neonatal dried blood spot samples: a proof-of-principle study.Semantic proximity Read ↗

A targeted gene capture next-generation sequencing panel for genetic screening of newborns.Semantic proximity Read ↗

High quality genome-wide genotyping from archived dried blood spots without DNA amplification.Semantic proximity Read ↗

Assessing quality and functionality of DNA from fresh and archival dried blood spots and recommendations for quality control guidelines.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.