Addressing the Missing Heritability Problem With the Help of Regulatory Features.

Shan-Shan Dong, Yan Guo, Tie-Lin Yang

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In one paragraph

Article in Evolutionary bioinformatics online, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

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3 · Its place in the literature

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1 citing paper in PubMed.

The Gut Microbiome as a Key Determinant of the Heritability of Body Mass Index.Nutrients · 2025
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4 · The record

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Comment on
Integrating regulatory features data for prediction of functional disease-associated SNPs.2019

5 · Who and what money

Authors and funding

3 authors.

Shan-Shan DongKey Laboratory of Biomedical Information Engineering of Ministry of Education, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, P. R. China.

Yan GuoKey Laboratory of Biomedical Information Engineering of Ministry of Education, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, P. R. China.

Tie-Lin YangKey Laboratory of Biomedical Information Engineering of Ministry of Education, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, P. R. China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have successfully identified thousands of susceptibility loci for human complex diseases. However, missing heritability is still a challenging problem. Considering most GWAS loci are located in regulatory elements, we recently developed a pipeline named functional disease-associated single-nucleotide polymorphisms (SNPs) prediction (FDSP), to predict novel susceptibility loci for complex diseases based on the interpretation of regulatory features and published GWAS results with machine learning. When applied to type 2 diabetes and hypertension, the predicted susceptibility loci by FDSP were proved to be capable of explaining additional heritability. In addition, potential target genes of the predicted positive SNPs were significantly enriched in disease-related pathways. Our results suggested that taking regulatory features into consideration might be a useful way to address the missing heritability problem. We hope FDSP could offer help for the identification of novel susceptibility loci for complex diseases.

Indexed as

complex diseasesFDSPMissing heritabilityregulatory features

Identifiers

PMID31320792

DOI10.1177/1176934319860861

PMCPMC6610400

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