Evidence map›Paper›PMID 32805020›Full record

ArticleBioinformatics (Oxford, England)2021

TRTools: a toolkit for genome-wide analysis of tandem repeats.

Nima Mousavi, Jonathan Margoliash, Neha Pusarla, Shubham Saini, Richard Yanicky, Melissa Gymrek

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 2 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

52 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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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

6 authors.

Nima MousaviDepartment of Electrical and Computer Engineering, University of California San Diego, La Jolla, 92093, USA.
Jonathan MargoliashDepartment of Medicine, University of California San Diego, La Jolla, 92093, USA.
Neha PusarlaDepartment of Bioengineering, University of California San Diego, La Jolla, 92093, USA.
Shubham SainiDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, 92093, USA.
Richard YanickyDepartment of Medicine, University of California San Diego, La Jolla, 92093, USA.
Melissa GymrekDepartment of Medicine, University of California San Diego, La Jolla, 92093, USA.ORCID 0000-0002-6086-3903

Funding

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
The role of structural variants and tandem repeats in substance abuse-related behavioral traitsU01DA051234 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA, PALMER, ABRAHAM A · 2021 to 2025
$3.5M
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 HG010149NIDA NIH HHS U01 DA051234NIH HHS DP5 OD024577
6 · The paper itself

Abstract

summaryA rich set of tools have recently been developed for performing genome-wide genotyping of tandem repeats (TRs). However, standardized tools for downstream analysis of these results are lacking. To facilitate TR analysis applications, we present TRTools, a Python library and suite of command line tools for filtering, merging and quality control of TR genotype files. TRTools utilizes an internal harmonization module, making it compatible with outputs from a wide range of TR genotypers. AVAILABILITY AND IMPLEMENTATION: TRTools is freely available at https://github.com/gymreklab/TRTools. Detailed documentation is available at https://trtools.readthedocs.io. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

SoftwareTandem Repeat SequencesDocumentationGene LibraryGenotype

Identifiers

PMID32805020
PMCPMC8097685

What OpenQuestion holds

Textmetadata
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.