Evidence map›Paper›PMID 34586498›Full record

ArticleMolecular genetics and genomics : MGG2021

Evaluating the estimation of genetic correlation and heritability using summary statistics.

Ju Zhang, Fredrick R Schumacher

Abstract read
In one paragraph

Article in Molecular genetics and genomics : MGG, 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
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

2 authors.

Ju ZhangDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. jxz617@case.edu.ORCID http://orcid.org/0000-0002-4049-9788
Fredrick R SchumacherDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.ORCID http://orcid.org/0000-0002-3073-7463

Funding

Quantifying and Characterizing the shared genetic contribution to common cancersU01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2015 to 2023
$3.0M
Leveraging cross-cancer shared heritability to better understand the genetic architecture of cancerR01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2020 to 2022
$1.6M
NCI NIH HHS CA194393NCI NIH HHS R01 CA194393NCI NIH HHS U01 CA194393
6 · The paper itself

Abstract

While novel statistical methods quantifying the shared heritability of traits and diseases between ancestral distinct populations have been recently proposed, a thorough evaluation of these approaches under differing circumstances remain elusive. Brown et al.2016 proposed the method Popcorn to estimate the shared heritability, i.e. genetic correlation, using only summary statistics. Here, we evaluate Popcorn under several parameters and circumstances: sample size, number of SNPs, sample size of external reference panel, various population pairs, inappropriate external reference panel, and admixed population involved. Our results determined the minimum sample size of the external reference panel, summary statistics, and number of SNPs required to accurately estimate both the genetic correlation and heritability. Moreover, the number of individuals and SNPs required to produce accurate and stable estimates was directly proportional with heritability in Popcorn. Misrepresentation of the reference panel overestimated the genetic correlation by 20% and heritability by 60%. Lastly, applying Popcorn to homogeneous (EUR) and admixed (ASW) populations underestimated the genetic correlation by 15%. Although statistical approaches estimating the shared heritability between ancestral populations will provide novel etiologic insight, caution is required ensuring results are based on the appropriate sample size, number of SNPs, and the generalizability of the reference panel to the discovery populations.

Indexed as

Models, GeneticQuantitative Trait, HeritableComputer SimulationGenetic BackgroundGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansNeoplasmsPolymorphism, Single NucleotideEvaluationGenetic correlationHeritabilitySummary statistics

Identifiers

PMID34586498
PMCPMC8550643

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.