Evidence map›Paper›PMID 38058186›Full record

ArticleBriefings in bioinformatics2023

xQTLbiolinks: a comprehensive and scalable tool for integrative analysis of molecular QTLs.

Ruofan Ding, Xudong Zou, Yangmei Qin, Lihai Gong, Hui Chen, Xuelian Ma, Shouhong Guang, Chen Yu, Gao Wang, Lei Li

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed.

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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

10 authors.

Ruofan DingInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Xudong ZouInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Yangmei QinInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Lihai GongInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Hui ChenInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Xuelian MaInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Shouhong GuangDepartment of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, The USTC RNA Institute, Ministry of Education Key Laboratory for Membraneless Organelles & Cellular Dynamics, School of Life Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, Anhui 230027, China.
Chen YuInstitute of Cancer Research, Shenzhen Bay Laboratory, Shenzhen 518055, China.
Gao WangThe Gertrude H. Sergievsky Center and the Department of Neurology, Columbia University, NY 10032, USA.
Lei LiInstitute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.

Funding

National Natural Science Foundation of China 32100533Shenzhen Bay Laboratory SZBL2021080601001
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified thousands of disease-associated non-coding variants, posing urgent needs for functional interpretation. Molecular Quantitative Trait Loci (xQTLs) such as eQTLs serve as an essential intermediate link between these non-coding variants and disease phenotypes and have been widely used to discover disease-risk genes from many population-scale studies. However, mining and analyzing the xQTLs data presents several significant bioinformatics challenges, particularly when it comes to integration with GWAS data. Here, we developed xQTLbiolinks as the first comprehensive and scalable tool for bulk and single-cell xQTLs data retrieval, quality control and pre-processing from public repositories and our integrated resource. In addition, xQTLbiolinks provided a robust colocalization module through integration with GWAS summary statistics. The result generated by xQTLbiolinks can be flexibly visualized or stored in standard R objects that can easily be integrated with other R packages and custom pipelines. We applied xQTLbiolinks to cancer GWAS summary statistics as case studies and demonstrated its robust utility and reproducibility. xQTLbiolinks will profoundly accelerate the interpretation of disease-associated variants, thus promoting a better understanding of disease etiologies. xQTLbiolinks is available at https://github.com/lilab-bioinfo/xQTLbiolinks.

Indexed as

Genome-Wide Association StudyQuantitative Trait LociComputational BiologyPhenotypePolymorphism, Single NucleotideReproducibility of Resultsbioinformaticsdisease variantseQTLGWASxQTL

Identifiers

PMID38058186
PMCPMC10701093

What OpenQuestion holds

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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.