Evidence map›Paper›PMID 7485172›Full record

ArticleAmerican journal of human genetics1995

Toward fully automated genotyping: genotyping microsatellite markers by deconvolution.

M W Perlin, G Lancia, S K Ng

Abstract read
In one paragraph

Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

27 citing papers in PubMed.

  1. Article
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  4. Review
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  10. Dopaminergic mutations: within-family association and linkage in multiplex alcohol dependence families.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008
    Article
  11. Article
  12. Automated DNA profile analysis.Forensic science, medicine, and pathology · 2005
    Article
  13. Article
  14. Article
  15. A genome wide search for alcoholism susceptibility genes.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2004
    Article
  16. Article
  17. Article
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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

3 authors.

M W PerlinComputer Science Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
G Lancia
S K Ng

Funding

AUTOMATED PCR-BASED DISEASE GENE MAPPINGR01NS032084 · NINDS · CARNEGIE-MELLON UNIVERSITY · PI PERLIN, MARK W · 1993 to 1995
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NINDS NIH HHS R01 NS32084
6 · The paper itself

Abstract

Dense genetic linkage maps have been constructed for the human and mouse genomes, with average densities of 2.9 cM and 0.35 cM, respectively. These genetic maps are crucial for mapping both Mendelian and complex traits and are useful in clinical genetic diagnosis. Current maps are largely comprised of abundant, easily assayed, and highly polymorphic PCR-based microsatellite markers, primarily dinucleotide (CA)n repeats. One key limitation of these length polymorphisms is the PCR stutter (or slippage) artifact that introduces additional stutter bands. With two (or more) closely spaced alleles, the stutter bands overlap, and it is difficult to accurately determine the correct alleles; this stutter phenomenon has all but precluded full automation, since a human must visually inspect the allele data. We describe here novel deconvolution methods for accurate genotyping that mathematically remove PCR stutter artifact from microsatellite markers. These methods overcome the manual interpretation bottleneck and thereby enable full automation of genetic map construction and use. New functionalities, including the pooling of DNAs and the pooling of markers, are described that may greatly reduce the associated experimentation requirements.

Indexed as

Genetic MarkersGenotypeAlgorithmsAnimalsDNA, SatelliteGenetic LinkageHumansMiceModels, GeneticPolymerase Chain ReactionDNA, SatelliteGenetic Markers

Identifiers

PMID7485172
PMCPMC1801391

What OpenQuestion holds

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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.