Evidence map›Paper›PMID 41229399›Full record

ArticleNAR genomics and bioinformatics2025

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Iliyas Rashid, Pooja S, Shivranjani C Moharir, Rakesh K Mishra

Abstract read
In one paragraph

Article in NAR genomics and bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

4 authors.

Iliyas RashidTata Institute for Genetics and Society, GKVK Post, Bellary Road, Bengaluru 560065, India.ORCID https://orcid.org/0000-0001-7186-8200
Pooja STata Institute for Genetics and Society, GKVK Post, Bellary Road, Bengaluru 560065, India.
Shivranjani C MoharirTata Institute for Genetics and Society, GKVK Post, Bellary Road, Bengaluru 560065, India.
Rakesh K MishraTata Institute for Genetics and Society, GKVK Post, Bellary Road, Bengaluru 560065, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare genetic disorders (RGDs) are conditions affecting fewer than 1 in 2000 individuals. Recent advances in genetics and healthcare renewed hope for better diagnosis and treatment. RGDs are common in India due to consanguinity and limited diagnostic testing. To converge the global- and India-specific knowledge about RGDs to a single platform for researchers, clinicians, and stakeholders, we developed GenTIGS database-a "go-to platform" for information retrieval and data analysis. GenTIGS is a comprehensive database containing information about genes, pathogenic variants, and clinical symptoms, with a focus on disorders reported globally and in India. GenTIGS delivers a variety of features and data points important to researchers, academicians, and clinicians in the RGD domain, ensuring efficient information retrieval. This platform provides information on 2306 RGDs and 2772 associated genes, including 691 disorders reported in India. It also includes details on 3525 clinical symptoms and 307 340 pathogenic variants for these disorders. GenTIGS offers comprehensive information and analytical tools for in-depth analysis and exploration of genes and variants associated with RGDs, thus supporting progress in genetic medicine and research through enhanced understanding and analysis. Accessible at https://db.tigs.res.in/gentigs/.

Indexed as

Databases, GeneticGenetic Diseases, InbornRare DiseasesHumansIndia

Identifiers

PMID41229399
PMCPMC12604666

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Registered trials

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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.