Evidence map›Paper›PMID 22796560›Full record

ArticleThe Journal of molecular diagnostics : JMD2012

Comparative analytical utility of DNA derived from alternative human specimens for molecular autopsy and diagnostics.

Tara L Klassen, Eva-Lotta von Rüden, Janice Drabek, Jeffrey L Noebels, Alica M Goldman

Abstract read
In one paragraph

Article in The Journal of molecular diagnostics : JMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
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

5 authors.

Tara L KlassenDepartment of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA. klassen@bcm.edu
Eva-Lotta von Rüden
Janice Drabek
Jeffrey L Noebels
Alica M Goldman

Funding

PLASTICITY IN DEVELOPING EPILEPTIC BRAINR01NS029709 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI NOEBELS, JEFFREY · 1991 to 2025
$9.1M
Parallel Sequence Profiling of Ion Channels in EpilepsyR01NS049130 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI NOEBELS, JEFFREY · 2004 to 2008
$5.1M
Copy Number Variants of Neuro-Cardiac Ion Channel Genes and the Risk of SUDEPR01NS067013 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI GOLDMAN, ALICA M · 2011 to 2014
$1.4M
PREDICTIVE GENES, MECHANISMS, AND CLINICAL BIOMARKERS OF SUDEPP20NS076916 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI NOEBELS, JEFFREY · 2011 to 2013
$1.4M
NINDS NIH HHS NS049130NINDS NIH HHS NS067013NINDS NIH HHS NS076916NINDS NIH HHS P20 NS076916NINDS NIH HHS R01 NS029709NINDS NIH HHS R01 NS049130NINDS NIH HHS R01 NS067013
6 · The paper itself

Abstract

Genetic testing and research have increased the demand for high-quality DNA that has traditionally been obtained by venipuncture. However, venous blood collection may prove difficult in special populations and when large-scale specimen collection or exchange is prerequisite for international collaborative investigations. Guthrie/FTA card-based blood spots, buccal scrapes, and finger nail clippings are DNA-containing specimens that are uniquely accessible and thus attractive as alternative tissue sources (ATS). The literature details a variety of protocols for extraction of nucleic acids from a singular ATS type, but their utility has not been systematically analyzed in comparison with conventional sources such as venous blood. Additionally, the efficacy of each protocol is often equated with the overall nucleic acid yield but not with the analytical performance of the DNA during mutation detection. Together with a critical in-depth literature review of published extraction methods, we developed and evaluated an all-inclusive approach for serial, systematic, and direct comparison of DNA utility from multiple biological samples. Our results point to the often underappreciated value of these alternative tissue sources and highlight ways to maximize the ATS-derived DNA for optimal quantity, quality, and utility as a function of extraction method. Our comparative analysis clarifies the value of ATS in genomic analysis projects for population-based screening, diagnostics, molecular autopsy, medico-legal investigations, or multi-organ surveys of suspected mosaicisms.

Indexed as

DNAGenetic TestingHumansMolecular Diagnostic TechniquesQuality ControlSpecimen HandlingDNA

Identifiers

PMID22796560
PMCPMC5803546

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.