Evidence map›Paper›PMID 40993437›Full record

ReviewNature reviews. Genetics2026

Advances in haplotype phasing and genotype imputation.

Quan Sun, Yun Li

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
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

2 authors.

Quan SunCenter for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-8324-2803
Yun LiDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. yunli@med.unc.edu.ORCID http://orcid.org/0000-0002-9275-4189

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Haplotype phasing - to determine which genetic variants reside on the same chromosome - and genotype imputation - to infer unobserved genotypes - have become indispensable steps to improve genome coverage for genomic analyses such as genome-wide association studies. Several tools exist for haplotype phasing and genotype imputation, all of which have continuously evolved to accommodate the increasing sample sizes of genomic studies and rapidly improving sequencing technologies. To fully leverage these recent advances, researchers must deliberate several practical considerations, including tool choice, quality control filters, data privacy concerns and reference panel choice. Looking ahead, long-read sequencing technologies are poised to bring novel opportunities to this field and drive methodological development.

Indexed as

Genome-Wide Association StudyGenotypeHaplotypesGenomicsHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single Nucleotide

Identifiers

What Socratic holds

Textmetadata
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 Socratic graph.