Evidence map›Paper›PMID 33205126›Full record

ArticlePatterns (New York, N.Y.)2020

Explaining the Genetic Causality for Complex Phenotype via Deep Association Kernel Learning.

Feng Bao, Yue Deng, Mulong Du, Zhiquan Ren, Sen Wan, Kenny Ye Liang, Shaohua Liu, Bo Wang, Junyi Xin, Feng Chen and 3 more

Abstract read
In one paragraph

Article in Patterns (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

13 authors.

Feng BaoDepartment of Automation, Tsinghua University, Beijing 100084, China.
Yue DengSchool of Astronautics, Beihang University, Beijing 100191, China.
Mulong DuDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Zhiquan RenDepartment of Automation, Tsinghua University, Beijing 100084, China.
Sen WanDepartment of Automation, Tsinghua University, Beijing 100084, China.
Kenny Ye LiangDepartment of Automation, Tsinghua University, Beijing 100084, China.
Shaohua LiuSchool of Astronautics, Beihang University, Beijing 100191, China.
Bo WangSchool of Astronautics, Beihang University, Beijing 100191, China.
Junyi XinDepartment of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing 211166, China.
Feng ChenDepartment of Biostatistics, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
David C ChristianiDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Meilin WangDepartment of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing 211166, China.
Qionghai DaiDepartment of Automation, Tsinghua University, Beijing 100084, China.

Funding

The Boston Lung Cancer Survival CohortU01CA209414 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI David C Christiani · 2017 to 2026
$12.2M
NCI NIH HHS U01 CA209414
6 · The paper itself

Abstract

The genetic effect explains the causality from genetic mutations to the development of complex diseases. Existing genome-wide association study (GWAS) approaches are always built under a linear assumption, restricting their generalization in dissecting complicated causality such as the recessive genetic effect. Therefore, a sophisticated and general GWAS model that can work with different types of genetic effects is highly desired. Here, we introduce a deep association kernel learning (DAK) model to enable automatic causal genotype encoding for GWAS at pathway level. DAK can detect both common and rare variants with complicated genetic effects where existing approaches fail. When applied to four real-world GWAS datasets including cancers and schizophrenia, our DAK discovered potential casual pathways, including the association between dilated cardiomyopathy pathway and schizophrenia.

Indexed as

association analysisdeep learningdisease causalitygenome-wide association studieskernel learning

Identifiers

PMID33205126
PMCPMC7660384

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.