Evidence map›Paper›PMID 33798443›Full record

ReviewAmerican journal of human genetics2021

A catalog of GWAS fine-mapping efforts in autoimmune disease.

Minal Caliskan, Christopher D Brown, Joseph C Maranville

Open access · hybridAbstract readReview
In one paragraph

Review in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
7.4field-weighted citation impact, top 2% of its field
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

41 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.

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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

3 authors at 2 institutions in 1 country.

Minal CaliskanDepartment of Informatics and Predictive Sciences, Bristol Myers Squibb, Princeton, NJ 08540, USA. Electronic address: minal.caliskan@bms.com.
Christopher D BrownDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Joseph C MaranvilleDepartment of Informatics and Predictive Sciences, Bristol Myers Squibb, Princeton, NJ 08540, USA.
Predictive Science (United States) · USUniversity of Pennsylvania · US

Funding

Epigenetic fine-mapping of cardiometabolic disease loci in the human liverR01HL133218 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2017 to 2020
$3.1M
NHLBI NIH HHS R01 HL133218
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have enabled unbiased identification of genetic loci contributing to common complex diseases. Because GWAS loci often harbor many variants and genes, it remains a major challenge to move from GWASs' statistical associations to the identification of causal variants and genes that underlie these association signals. Researchers have applied many statistical and functional fine-mapping strategies to prioritize genetic variants and genes as potential candidates. There is no gold standard in fine-mapping approaches, but consistent results across different approaches can improve confidence in the fine-mapping findings. Here, we combined text mining with a systematic review and formed a catalog of 85 studies with evidence of fine mapping for at least one autoimmune GWAS locus. Across all fine-mapping studies, we compiled 230 GWAS loci with allelic heterogeneity estimates and predictions of causal variants and trait-relevant genes. These 230 loci included 455 combinations of locus-by-disease association signals with 15 autoimmune diseases. Using these estimates, we assessed the probability of mediating disease risk associations across genes in GWAS loci and identified robust signals of causal disease biology. We predict that this comprehensive catalog of GWAS fine-mapping efforts in autoimmune disease will greatly help distill the plethora of information in the field and inform therapeutic strategies.

Indexed as

Genome-Wide Association StudyAutoimmune DiseasesHumans

Identifiers

PMID33798443
PMCPMC8059376
OpenAlexW3141309774

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.