Evidence map›Paper›PMID 31780650›Full record

ArticleNature communications2019

Accurate, scalable and integrative haplotype estimation.

Olivier Delaneau, Jean-François Zagury, Matthew R Robinson, Jonathan L Marchini, Emmanouil T Dermitzakis

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 404 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
404citing papers in PubMed, 8 pooled it
41.6field-weighted citation impact, top 1% of its field
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

404 citing papers in PubMed, 8 syntheses or guidelines pooled it, 693 citations in OpenAlex.

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344 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

5 authors at 4 institutions in 3 countries.

Olivier DelaneauDepartment of Computational Biology, University of Lausanne, Génopode, 1015, Lausanne, Switzerland. olivier.delaneau@unil.ch.ORCID http://orcid.org/0000-0002-3906-8446
Jean-François ZaguryChaire de Bioinformatique, Laboratoire GBCM (EA7528), Conservatoire National des Arts et Métiers, HESAM Université, Paris, France.
Matthew R RobinsonDepartment of Computational Biology, University of Lausanne, Génopode, 1015, Lausanne, Switzerland.
Jonathan L MarchiniDepartment of Statistics, University of Oxford, 24-29 St. Giles, Oxford, OX1 3LB, UK.
Emmanouil T DermitzakisDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, 1211, Geneva, Switzerland.ORCID http://orcid.org/0000-0002-9302-6490
SIB Swiss Institute of Bioinformatics · CHConservatoire National des Arts et Métiers · FRUniversity of Geneva · CHUniversity of Oxford · GB

Funding

Medical Research Council MC_PC_12028Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

The number of human genomes being genotyped or sequenced increases exponentially and efficient haplotype estimation methods able to handle this amount of data are now required. Here we present a method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear running times with sample size, provides highly accurate haplotypes and allows integrating external phasing information such as large reference panels of haplotypes, collections of pre-phased variants and long sequencing reads. We provide SHAPEIT4 in an open source format and demonstrate its performance in terms of accuracy and running times on two gold standard datasets: the UK Biobank data and the Genome In A Bottle.

Indexed as

Data Interpretation, StatisticalHaplotypesSoftwareBiological Specimen BanksDatasets as TopicGenotypeHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single NucleotideSample SizeSequence Analysis, DNA

Identifiers

PMID31780650
PMCPMC6882857
OpenAlexW2990059271

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.