Evidence map›Paper›PMID 30352806›Full record

ArticleGenome research2018

Targeted genotyping of variable number tandem repeats with adVNTR.

Mehrdad Bakhtiari, Sharona Shleizer-Burko, Melissa Gymrek, Vikas Bansal, Vineet Bafna

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing 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

56 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.

  1. Guideline
  2. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
    Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Structure of a polymorphic repeat at theProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Structure of a polymorphic repeat at themedRxiv : the preprint server for health sciences · 2025
    Article
  9. Long and Accurate: How HiFi Sequencing is Transforming Genomics.Genomics, proteomics & bioinformatics · 2025
    Review
  10. Article
  11. Review
  12. Article
  13. 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

5 authors at 1 institution in 1 country.

Mehrdad BakhtiariDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, California 92093, USA.ORCID 0000-0001-9027-9858
Sharona Shleizer-BurkoDepartment of Medicine, University of California, San Diego, La Jolla, California 92093, USA.
Melissa GymrekDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, California 92093, USA.
Vikas BansalDepartment of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA.
Vineet BafnaDepartment of Computer Science and Engineering, University of California, San Diego, La Jolla, California 92093, USA.
University of California San Diego · US

Funding

TrainingP41GM103484 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PEVZNER, PAVEL A · 2012 to 2018
$8.7M
Refining Mendelian disease analysis via detection of clinically relevant repeat variantsR01HG010149 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna, Vikas Bansal · 2018 to 2026
$4.5M
Computational methods for detecting patterns of complex genomic variationR01GM114362 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna · 2016 to 2026
$3.1M
Systematic identification and interpretation of repetitive variants underlying schizophreniaDP5OD024577 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA · 2017 to 2021
$1.9M
NHGRI NIH HHS R01 HG010149NIGMS NIH HHS P41 GM103484NIGMS NIH HHS R01 GM114362NIH HHS DP5 OD024577
6 · The paper itself

Abstract

Whole-genome sequencing is increasingly used to identify Mendelian variants in clinical pipelines. These pipelines focus on single-nucleotide variants (SNVs) and also structural variants, while ignoring more complex repeat sequence variants. Here, we consider the problem of genotyping

Indexed as

Minisatellite RepeatsGenome, HumanGenotyping TechniquesHumansMarkov ChainsPolymorphism, Genetic

Identifiers

PMID30352806
PMCPMC6211647
OpenAlexW2897049009

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.