ArticleHGG advances2022
Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses that pooled it.
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Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pervasive Downward Bias in Estimates of Liability-Scale Heritability in Genome-wide Association Study Meta-analysis: A Simple Solution.Biological psychiatry · 2023Pooled it
- Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians.International journal of cancer · 2022Pooled it
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- PGS-GS: a framework integrating polygenic scores and genomic selection in animal breeding.Briefings in bioinformatics · 2026Article
- Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder.Research square · 2026Article
- The genetic architecture of fibromyalgia across 2.5 million individuals.Nature medicine · 2026Article
- Mapping the genetic architecture of human cortical expansion and its links to neuropsychiatric disorders.bioRxiv : the preprint server for biology · 2026Article
- PGS Browser: a public platform for personalized polygenic score analysis and interpretation.Nature communications · 2026Article
- Polygenic Risk Scores for Breast Cancer Among African American Women With High Risk.JAMA network open · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Empirical evaluation of analytic validity of polygenic scores.Genome medicine · 2026Article
- Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry.Nature genetics · 2026Article
- Comprehensive benchmarking single and multi ancestry polygenic score methods with the PGS-hub platform.Nature communications · 2026Article
- Contrasting Risk Profiles for Suicide Attempt and Suicide Using Danish Registers and Genetic Data.JAMA psychiatry · 2026Article
- Genetic susceptibility for neurodevelopmental disorders in children born to women with epilepsy.Brain communications · 2026Article
- First insights into microbial changes within an Inflammatory Bowel Disease Family Cohort study.Gut microbes · 2025Article
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- Paternal valproate use and impact of shared genetic susceptibility on child neurodevelopment.Scientific reports · 2025Article
- Benefits of Better Cardiovascular Health for Calcific Aortic Valve Stenosis Stratified by Polygenic Risk Score.Genomics, proteomics & bioinformatics · 2025Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
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Abstract
Publicly available genome-wide association studies (GWAS) summary statistics exhibit uneven quality, which can impact the validity of follow-up analyses. First, we present an overview of possible misspecifications that come with GWAS summary statistics. Then, in both simulations and real-data analyses, we show that additional information such as imputation INFO scores, allele frequencies, and per-variant sample sizes in GWAS summary statistics can be used to detect possible issues and correct for misspecifications in the GWAS summary statistics. One important motivation for us is to improve the predictive performance of polygenic scores built from these summary statistics. Unfortunately, owing to the lack of reporting standards for GWAS summary statistics, this additional information is not systematically reported. We also show that using well-matched linkage disequilibrium (LD) references can improve model fit and translate into more accurate prediction. Finally, we discuss how to make polygenic score methods such as lassosum and LDpred2 more robust to these misspecifications to improve their predictive power.
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