Evidence map›Paper›PMID 25135957›Full record

ArticleGenome research2014

The landscape of human STR variation.

Thomas Willems, Melissa Gymrek, Gareth Highnam, 1000 Genomes Project Consortium, David Mittelman, Yaniv Erlich

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 175 papers.

0numbers the graph read from it
0cells of the map it votes in
175citing 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

175 citing papers in PubMed, 306 citations in OpenAlex.

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115 more citing papers are in PubMed but not listed here.

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 at 3 institutions in 1 country.

Thomas WillemsWhitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA; Computational and Systems Biology Program, MIT, Cambridge, Massachusetts 02139, USA;
Melissa GymrekWhitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA; Harvard-MIT Division of Health Sciences and Technology, MIT, Cambridge, Massachusetts 02139, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA; Department of Molecular Biology and Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;
Gareth HighnamVirginia Bioinformatics Institute and Department of Biological Sciences, Virginia Tech, Blacksburg, Virginia 24061, USA;
1000 Genomes Project Consortium
David MittelmanVirginia Bioinformatics Institute and Department of Biological Sciences, Virginia Tech, Blacksburg, Virginia 24061, USA; Gene by Gene, Ltd., Houston, Texas 77008, USA.
Yaniv ErlichWhitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA; yaniv@wi.mit.edu.
Virginia Tech · USWhitehead Institute for Biomedical Research · USBroad Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeats are among the most polymorphic loci in the human genome. These loci play a role in the etiology of a range of genetic diseases and have been frequently utilized in forensics, population genetics, and genetic genealogy. Despite this plethora of applications, little is known about the variation of most STRs in the human population. Here, we report the largest-scale analysis of human STR variation to date. We collected information for nearly 700,000 STR loci across more than 1000 individuals in Phase 1 of the 1000 Genomes Project. Extensive quality controls show that reliable allelic spectra can be obtained for close to 90% of the STR loci in the genome. We utilize this call set to analyze determinants of STR variation, assess the human reference genome's representation of STR alleles, find STR loci with common loss-of-function alleles, and obtain initial estimates of the linkage disequilibrium between STRs and common SNPs. Overall, these analyses further elucidate the scale of genetic variation beyond classical point mutations.

Indexed as

Polymorphism, Single NucleotideAllelesGene FrequencyGenetics, PopulationGenetic VariationGenome, HumanGenomicsGenotypeHumansLinkage DisequilibriumMicrosatellite Repeats

Identifiers

PMID25135957
PMCPMC4216929
OpenAlexW2124561138

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.