Evidence map›Paper›PMID 37128447›Full record

ArticleAMIA ... Annual Symposium proceedings. AMIA Symposium2022

LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.

Michael T Watkins, Wendy K Kohlmann, Therese S Berry, Neetha R Sama, Cathryn Koptiuch, Shawn G Rynearson, Karen L Eilbeck

Abstract read
In one paragraph

Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

7 authors.

Michael T WatkinsUniversity of Utah, Salt Lake City, UT.
Wendy K KohlmannHuntsman Cancer Institute, Salt Lake City, UT.
Therese S BerryHuntsman Cancer Institute, Salt Lake City, UT.
Neetha R SamaHuntsman Cancer Institute, Salt Lake City, UT.
Cathryn KoptiuchHuntsman Cancer Institute, Salt Lake City, UT.
Shawn G RynearsonUniversity of Utah, Salt Lake City, UT.
Karen L EilbeckUniversity of Utah, Salt Lake City, UT.

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI KATHARINE S ULLMAN · 1986 to 2026
$72.6M
UNIVERSITY OF UTAH MEDICAL INFORMATICS TRAININGT15LM007124 · NLM · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Karen Louise Eilbeck · 1997 to 2026
$22.0M
NCI NIH HHS P30 CA042014NLM NIH HHS T15 LM007124
6 · The paper itself

Abstract

While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maintain such local collections and are burdened by frequent changes in the representation of those variants and evolving interpretations of clinical significance. A dictionary of genetic variants from the Huntsman Cancer Institute was analyzed over a period of two years and used to inform the development of LocalVar. This tool uses publicly available ClinVar files to provide the following functionality: auto-complete search bar to pre-empt duplicate entries; single or bulk new variant record entry; auto-detection of duplicate and synonymous variant records; asynchronous suggestion of HGVS expression or variant interpretation updates; extensive edit history tracking; and the easy export of the collection (.csv), edit history (.json), or HGVS synonym bins (.json).

Indexed as

Databases, GeneticGenetic VariationGenome, HumanHumans

Identifiers

PMID37128447
PMCPMC10148312

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.