Evidence map›Paper›PMID 33532840›Full record

ArticleBioinformatics (Oxford, England)2021

Motif-Raptor: a cell type-specific and transcription factor centric approach for post-GWAS prioritization of causal regulators.

Qiuming Yao, Paolo Ferragina, Yakir Reshef, Guillaume Lettre, Daniel E Bauer, Luca Pinello

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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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3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Qiuming YaoDepartment of Pathology, Massachusetts General Hospital, Charlestown, MA 02129, USA.ORCID 0000-0001-9974-8788
Paolo FerraginaDepartment of Computer Science, University of Pisa, Pisa 56128, Italy.
Yakir ReshefDepartment of Computer Science, Harvard University, Cambridge, MA 02138, USA.
Guillaume LettreFaculty of Medicine, Université de Montréal, Montreal, Quebec H3C3J7, Canada.ORCID 0000-0002-7740-3399
Daniel E BauerDivision of Hematology/Oncology, Boston Children's Hospital, Boston, MA 02115, USA.
Luca PinelloDepartment of Pathology, Massachusetts General Hospital, Charlestown, MA 02129, USA.ORCID 0000-0003-1109-3823

Funding

TRANSCRIPTION FACTOR GATA-1 IN TERMINAL ERYTHROID DEVELOPMENTP01HL032262 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI ORKIN, STUART H · 1985 to 2021
$38.9M
High-throughput discovery of essential noncoding sequences for erythropoiesisDP2HL137300 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI BAUER, DANIEL EVAN · 2016 to 2016
$2.7M
Multiscale exploration of the functional non-coding genomeR35HG010717 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI PINELLO, LUCA · 2019 to 2023
$2.6M
Discovering disease-causal variants by linking genetic and epigenetic variationR00HG008399 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI PINELLO, LUCA · 2017 to 2019
$747k
NHGRI NIH HHS R00 HG008399NHGRI NIH HHS R35 HG010717NHLBI NIH HHS DP2 HL137300NHLBI NIH HHS P01 HL032262
6 · The paper itself

Abstract

motivationGenome-wide association studies (GWASs) have identified thousands of common trait-associated genetic variants but interpretation of their function remains challenging. These genetic variants can overlap the binding sites of transcription factors (TFs) and therefore could alter gene expression. However, we currently lack a systematic understanding on how this mechanism contributes to phenotype.

resultsWe present Motif-Raptor, a TF-centric computational tool that integrates sequence-based predictive models, chromatin accessibility, gene expression datasets and GWAS summary statistics to systematically investigate how TF function is affected by genetic variants. Given trait-associated non-coding variants, Motif-Raptor can recover relevant cell types and critical TFs to drive hypotheses regarding their mechanism of action. We tested Motif-Raptor on complex traits such as rheumatoid arthritis and red blood cell count and demonstrated its ability to prioritize relevant cell types, potential regulatory TFs and non-coding SNPs which have been previously characterized and validated. AVAILABILITY AND IMPLEMENTATION: Motif-Raptor is freely available as a Python package at: https://github.com/pinellolab/MotifRaptor. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Identifiers

PMID33532840
PMCPMC11025460

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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.