SynthesisHuman molecular genetics2016
Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.
Synthesis in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.Molecular metabolism · 2022Pooled it
- Machine learning improves SNP microarray performance in challenged samples.Bioinformatics advances · 2026Article
- Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context.Molecular ecology resources · 2025Article
- Genome-Wide Association Analysis of Flavor Precursor Traits in Chengkou Mountain Chicken.Animals : an open access journal from MDPI · 2025Article
- Evaluation of Low-Coverage Sequencing Strategies for Whole-Genome Imputation in Pacific AbaloneInternational journal of molecular sciences · 2025Article
- Article
- Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease.Nature protocols · 2023Review
- Unravelling the genetic architecture of human complex traits through whole genome sequencing.Nature communications · 2023Article
- Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing.Genetics, selection, evolution : GSE · 2022Article
- Moment estimators of relatedness from low-depth whole-genome sequencing data.BMC bioinformatics · 2022Article
- Genomic Selection in Aquaculture Species.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Mapping the serum proteome to neurological diseases using whole genome sequencing.Nature communications · 2021Article
- Efficient phasing and imputation of low-coverage sequencing data using large reference panels.Nature genetics · 2021Article
- Genomics of disease risk in globally diverse populations.Nature reviews. Genetics · 2019Review
- Very low-depth whole-genome sequencing in complex trait association studies.Bioinformatics (Oxford, England) · 2019Article
- Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.Nature communications · 2018Article
- Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.BMC medical genomics · 2018Article
- The impact of rare and low-frequency genetic variants in common disease.Genome biology · 2017Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Cohort-wide very low-depth whole-genome sequencing (WGS) can comprehensively capture low-frequency sequence variation for the cost of a dense genome-wide genotyping array. Here, we analyse 1x sequence data across the APOC3 gene in a founder population from the island of Crete in Greece (n = 1239) and find significant evidence for association with blood triglyceride levels with the previously reported R19X cardioprotective null mutation (β = -1.09,σ = 0.163, P = 8.2 × 10
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Registered trials
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.