Evidence map›Paper›PMID 25056320›Full record

ArticleNucleic acids research2014

VNTRseek-a computational tool to detect tandem repeat variants in high-throughput sequencing data.

Yevgeniy Gelfand, Yozen Hernandez, Joshua Loving, Gary Benson

Abstract read
In one paragraph

Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing 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

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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

23 citing papers in PubMed.

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  11. The Concept of Immunogenetics.Advances in experimental medicine and biology · 2022
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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

4 authors.

Yevgeniy GelfandLaboratory for Biocomputing and Informatics, Boston University, Boston, MA 02215, USA.
Yozen HernandezGraduate Program in Bioinformatics, Boston University, Boston, MA 02215, USA.
Joshua LovingGraduate Program in Bioinformatics, Boston University, Boston, MA 02215, USA.
Gary BensonLaboratory for Biocomputing and Informatics, Boston University, Boston, MA 02215, USA Graduate Program in Bioinformatics, Boston University, Boston, MA 02215, USA Department of Computer Science, Boston University, Boston, MA 02215, USA gbenson@bu.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DNA tandem repeats (TRs) are ubiquitous genomic features which consist of two or more adjacent copies of an underlying pattern sequence. The copies may be identical or approximate. Variable number of tandem repeats or VNTRs are polymorphic TR loci in which the number of pattern copies is variable. In this paper we describe VNTRseek, our software for discovery of minisatellite VNTRs (pattern size ≥ 7 nucleotides) using whole genome sequencing data. VNTRseek maps sequencing reads to a set of reference TRs and then identifies putative VNTRs based on a discrepancy between the copy number of a reference and its mapped reads. VNTRseek was used to analyze the Watson and Khoisan genomes (454 technology) and two 1000 Genomes family trios (Illumina). In the Watson genome, we identified 752 VNTRs with pattern sizes ranging from 7 to 84 nt. In the Khoisan genome, we identified 2572 VNTRs with pattern sizes ranging from 7 to 105 nt. In the trios, we identified between 2660 and 3822 VNTRs per individual and found nearly 100% consistency with Mendelian inheritance. VNTRseek is, to the best of our knowledge, the first software for genome-wide detection of minisatellite VNTRs. It is available at http://orca.bu.edu/vntrseek/.

Indexed as

Minisatellite RepeatsSoftwareGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansINDEL MutationSequence Analysis, DNA

Identifiers

PMID25056320
PMCPMC4132751

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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.