Evidence map›Paper›PMID 27270109›Full record

ArticleNature genetics2016

Fast and accurate long-range phasing in a UK Biobank cohort.

Po-Ru Loh, Pier Francesco Palamara, Alkes L Price

Abstract read
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 234 papers, 15 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
234citing papers in PubMed, 15 pooled it
–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

234 citing papers in PubMed, 15 syntheses or guidelines pooled it.

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  14. RICOPILI: Rapid Imputation for COnsortias PIpeLIne.Bioinformatics (Oxford, England) · 2020
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174 more citing papers are in PubMed but not listed here.

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

3 authors.

Po-Ru LohDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Pier Francesco PalamaraDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Alkes L PriceDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

Funding

Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Orchestra: A high performance biomedical supercomputing collaborativeS10RR028832 · NCRR · HARVARD MEDICAL SCHOOL · PI DANUSER, GAUDENZ · 2010 to 2010
$3.7M
Fast and powerful extensions of mixed model methods for GWASF32HG007805 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LOH, PO-RU · 2014 to 2017
$150k
Medical Research Council MC_QA137853NCRR NIH HHS S10 RR028832NHGRI NIH HHS F32 HG007805NHGRI NIH HHS R01 HG006399NIMH NIH HHS R01 MH101244
6 · The paper itself

Abstract

Recent work has leveraged the extensive genotyping of the Icelandic population to perform long-range phasing (LRP), enabling accurate imputation and association analysis of rare variants in target samples typed on genotyping arrays. Here we develop a fast and accurate LRP method, Eagle, that extends this paradigm to populations with much smaller proportions of genotyped samples by harnessing long (>4-cM) identical-by-descent (IBD) tracts shared among distantly related individuals. We applied Eagle to N ≈ 150,000 samples (0.2% of the British population) from the UK Biobank, and we determined that it is 1-2 orders of magnitude faster than existing methods while achieving similar or better phasing accuracy (switch error rate ≈ 0.3%, corresponding to perfect phase in a majority of 10-Mb segments). We also observed that, when used within an imputation pipeline, Eagle prephasing improved downstream imputation accuracy in comparison to prephasing in batches using existing methods, as necessary to achieve comparable computational cost.

Indexed as

AlgorithmsBiological Specimen BanksGenetics, PopulationCohort StudiesComputational BiologyGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansInheritance PatternsPolymorphism, Single NucleotideSequence Analysis, DNAUnited KingdomWhite People

Identifiers

PMID27270109
PMCPMC4925291

What OpenQuestion holds

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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.