ArticleNature genetics2016
Reference-based phasing using the Haplotype Reference Consortium panel.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05277116 (The Electronic Medical Records and GEnomics), which is not on this map. Cited by 1,171 papers, 10 of them syntheses that pooled it.
What it found
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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.
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.
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
Who cites it
1,171 citing papers in PubMed, 10 syntheses or guidelines pooled it.
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- Association of genetic variation with age at diagnosis in type 1 diabetes.BMJ open diabetes research & care · 2026Pooled it
- The influence of fetal sex on maternal blood pressure in pregnancy.BMC medicine · 2025Pooled it
- The Genetic Architecture of the Human Corpus Callosum and its Subregions.Nature communications · 2025Pooled it
- Multi-ancestry genome-wide association analyses of polycystic ovary syndrome.Nature genetics · 2025Pooled it
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.Nature communications · 2025Pooled it
- A contextual genomic perspective on physical activity and its relationship to health, well being and illness.Nature genetics · 2025Pooled it
- Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.Genome biology · 2025Pooled it
- Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Enhanced disease resistance in chickpea and canola via MAGPIE: Major-Effect Allele and Genomic Polygenic Integration for Enhancement.The plant genome · 2026Article
- Association of Polygenic Risk Score for Suicidal Behavior With Ventral Prefrontal Morphology in Bipolar Disorder.Bipolar disorders · 2026Article
- Polygenic Risk Scores Show Distinct Genetic Architectures of IBD-Associated Comorbidities.Digestive diseases and sciences · 2026Article
- Expanding the pig metabolomics QTL catalog.Genetics, selection, evolution : GSE · 2026Article
- Small variant calling in the era of long-read sequencing.Nature reviews. Genetics · 2026Review
- Article
- A founder population reveals genetic variation with major effect on serious mental illness.medRxiv : the preprint server for health sciences · 2026Article
- Methodological strategies for mappingWorld journal of methodology · 2026Review
- The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans.Communications biology · 2026Article
1,111 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing in a genotyped cohort, an approach that can yield high accuracy in very large cohorts but attains lower accuracy in smaller cohorts. Here we instead explore the paradigm of reference-based phasing. We introduce a new phasing algorithm, Eagle2, that attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external reference panels (such as the Haplotype Reference Consortium; HRC) using a new data structure based on the positional Burrows-Wheeler transform. We demonstrate that Eagle2 attains a ∼20× speedup and ∼10% increase in accuracy compared to reference-based phasing using SHAPEIT2. On European-ancestry samples, Eagle2 with the HRC panel achieves >2× the accuracy of 1000 Genomes-based phasing. Eagle2 is open source and freely available for HRC-based phasing via the Sanger Imputation Service and the Michigan Imputation Server.
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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.