RegionScan: a comprehensive R package for region-level genome-wide association testing with integration and visualization of multiple-variant and single-variant hypothesis testing.

Myriam Brossard, Delnaz Roshandel, Kexin Luo, Fatemeh Yavartanoo, Andrew D Paterson, Yun J Yoo, Shelley B Bull

Abstract read

In one paragraph

Article in Bioinformatics advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Myriam BrossardLunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5T 3L9, Canada.ORCID https://orcid.org/0000-0003-4144-3978

Delnaz RoshandelGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.ORCID https://orcid.org/0000-0002-4902-8587

Kexin LuoLunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5T 3L9, Canada.

Fatemeh YavartanooDepartment of Mathematics Education, Seoul National University, Seoul 08826, South Korea.ORCID https://orcid.org/0009-0004-6400-9685

Andrew D PatersonGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.ORCID https://orcid.org/0000-0002-9169-118X

Yun J YooDepartment of Mathematics Education, Seoul National University, Seoul 08826, South Korea.ORCID https://orcid.org/0000-0003-4769-0400

Shelley B BullLunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5T 3L9, Canada.ORCID https://orcid.org/0000-0002-3280-7154

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Summary: RegionScan is designed for scalable genome-wide association testing of both multiple-variant and single-variant region-level statistics, with visualization of the results. For detection of association under various regional architectures, it implements three classes of state-of-the-art region-level tests, including multiple-variant linear/logistic regression (with and without dimension reduction), a variance-component score test, and region-level min Availability and implementation: RegionScan is freely available for download on GitHub (https://github.com/brossardMyriam/RegionScan).

Identifiers

PMID40160476

DOI10.1093/bioadv/vbaf052

PMCPMC11951254

What Socratic holds

Textmetadata

LicenceCC BY

Read underepoch 390

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 Socratic graph.