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Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

medRxiv(2022)10.1101/2022.12.15.22283542Source: DataRank Database

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes is a research paper published in medRxiv (2022). On theSindex it has a DataRank of 0.

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Enrichment:Funding (13 grants)OA: greenTopics (29)IDs (PubMed)Annotations (1)SDGs (1)

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Authors (4)

Tracy A. O’Mara ORCID,Amanda B. Spurdle ORCID,Dylan M. Glubb ORCID,Daffodil M. Canson ORCID

Live enrichment

PubMed:30945415

National Institutes of Health

Grant: 5U19CA148065-04

Discovery Expansion and Replication

Wellcome Trust

Grant: unidentified

unidentified

National Health and Medical Research Council (NHMRC)

Grant: 552402

A genome-wide association study of endometrial cancer

National Health and Medical Research Council (NHMRC)

Grant: 1111246

Finding genetic risk markers for endometrial and other cancers

National Institutes of Health

Grant: 5F32CA007491-03

EFFECT OF TRANSFORMATION ON REGULATION OF GM3 SYNTHETASE

National Institutes of Health

Grant: 5R01CA058598-05

COLLABORATIVE STUDY OF OVARIAN CANCER IN TWO RISK GROUPS

Wellcome Trust

Grant: 090532

Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics.

National Health and Medical Research Council (NHMRC)

Grant: 1031333

Extension of a two-stage genome-wide association study of endometrial cancer: validation of endometrial cancer risk-associated alleles and identification of ‘multiple-cancer’ risk loci

National Institutes of Health

Grant: 3U19CA148112-04S1

Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)

National Institutes of Health

Grant: 5R01LM013039-02

HealthyMe/MiSalud Smartphone Application: Identifying Mechanisms to Engage African Americans and Hispanics in Personal Health Libraries

National Institutes of Health

Grant: 5R01CA149429-05

The Mitochondrial Genome and Ovarian Cancer Risk

National Institutes of Health

Grant: 5R01CA134958-02

Genome-Wide Association Study of Endometrial Cancer

National Health and Medical Research Council (NHMRC)

Grant: 1061779

Research Fellowship – Genetic Epidemiology studies of hormonal cancers to inform improved healthcare

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2022/12/16/2022.12.15.22283542.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2022.12.15.22283542

https://doi.org/10.1016/j.xhgg.2023.100185

https://doi.org/10.1101/2022.12.15.22283542

https://pubmed.ncbi.nlm.nih.gov/36908940

Fields of Study

0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

2716 Genetics (clinical)Quantitative Trait Loci610spliceogenicQH426-470splicingPhosphoproteins/geneticsReportGeneticsGWASHumansGenetic Predisposition to DiseaseGenetics (clinical)Genetic Predisposition to Disease/geneticsPhosphoproteinsEndometrial NeoplasmsAlternative SplicingNF11313 Molecular Medicineendometrial cancerMolecular MedicinesQTLFemaleQuantitative Trait Loci/geneticsEndometrial Neoplasms/geneticsGenome-Wide Association Study

Sustainable Development Goals

SDG 3: 3. Good health

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

FAIR Checklist

Authors (4)

Funding (13 grants)

Open Access

Topics

Annotations (Europe PMC)