Evidence map›Paper›PMID 20198415›Full record

ArticleJournal of assisted reproduction and genetics2010

The single cell as a tool for genetic testing: credibility, precision, implication.

Keren Dotan, Baruch Feldman, Boleslaw Goldman, Yehuda Peri, Leah Peleg

Abstract readEvaluation Study
In one paragraph

Article in Journal of assisted reproduction and genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–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. Article
  2. Pre-implantation genetic diagnosis-should we use ICSI for all?Journal of assisted reproduction and genetics · 2017
    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.

Keren DotanDanek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel.
Baruch Feldman
Boleslaw Goldman
Yehuda Peri
Leah Peleg

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo investigate the influence of amplicons size and cell type on allele dropout and amplification failures in single-cell based molecular diagnosis.

methods730 single lymphocytes and amniotic cells were collected from known heterozygotes individuals to one of the common Ashkenazi Jewish mutations: 1278+TATC and IVS12+1G>C which cause Tay Sachs Disease, IVS20+6T and 854A>C which underlie Familial Dysautonomia and Canavan Disease. DNA was extracted and analyzed by our routine methods.

resultsReduced rates of allele dropout and amplification failure were found when smaller amplification product were designed and in amniotic cultured cells compared to peripheral lymphocytes. Cultured lymphocytes, induced to divide, demonstrated significantly less allele dropout than non induced lymphocytes suggesting the role of division potential on amplification efficiency.

conclusionSingle cell based diagnosis should be designed for each mutation. Minimal sized amplicons and cell having division potential should be preferred, as well as sensitive techniques to detect preferential amplification.

Indexed as

Amniotic FluidCanavan DiseaseDNA Mutational AnalysisDysautonomia, FamilialHumansLymphocytesNucleic Acid Amplification TechniquesPreimplantation DiagnosisSensitivity and SpecificityTay-Sachs Disease

Identifiers

PMID20198415
PMCPMC2914594

What OpenQuestion holds

Textmetadata
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Registered trials

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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.