Evidence map›Paper›PMID 35047837›Full record

ArticleHGG advances2021

Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records.

Hye In Kim, Bin Ye, Jeffrey Staples, Anthony Marcketta, Chuan Gao, Regeneron Genetics Center, Geisinger Regeneron DiscovEHR Collaboration, Alan R Shuldiner, Cristopher V Van Hout

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Parent-of-Origin inference for biobanks.Nature communications · 2022
    Article
  3. Review
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

9 authors at 1 institution in 1 country.

Hye In KimRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Bin YeRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Jeffrey StaplesRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Anthony MarckettaRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Chuan GaoRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Regeneron Genetics Center
Geisinger Regeneron DiscovEHR Collaboration
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Cristopher V Van HoutRegeneron Genetics Center, Tarrytown, NY 10591, USA.
Regeneron (United States) · US

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Parent-of-origin (PoO) effects refer to the differential phenotypic impacts of genetic variants dependent on their parental inheritance due to imprinting. While PoO effects can influence complex traits, they may be poorly captured by models that do not differentiate the parental origin of the variant. The aim of this study was to conduct a genome-wide screen for PoO effects on a broad range of clinical traits derived from electronic health records (EHR) in the DiscovEHR study enriched with familial relationships. Using pairwise kinship estimates from genetic data and demographic data, we identified 22,051 offspring among 134,049 individuals in the DiscovEHR study. PoO of ~9 million variants was assigned in the offspring by comparing offspring and parental genotypes and haplotypes. We then performed genome-wide PoO association analyses across 154 quantitative and 611 binary traits extracted from EHR. Of the 732 significant PoO associations identified (p < 5 × 10

Indexed as

electronic health recordfamilial relationshipGWASimprintingparent-of-origin effect

Identifiers

PMID35047837
PMCPMC8756508
OpenAlexW3168137830

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.