Evidence map›Paper›PMID 40702725›Full record

ArticleHGG advances2025

Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses.

Cole M Williams, Jared O'Connell, Ethan Jewett, William A Freyman, 23andMe Research Team, Christopher R Gignoux, Sohini Ramachandran, Amy L Williams

Erratum issuedAbstract read
In one paragraph

Article in HGG advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. A Benchmark of Modern Statistical Phasing Methods.bioRxiv : the preprint server for biology · 2026
    Article
  4. AlleleMiner: a long-read pipeline for gene-wise de novo allele phasing and variant detection in diploid citrus cultivars.DNA research : an international journal for rapid publication of reports on genes and genomes · 2026
    Article
  5. Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Cole M WilliamsCenter for Computational Molecular Biology, Brown University, Providence, RI 02912, USA; Department of Ecology, Evolution, and Organismal Biology, Brown University, Providence, RI 02912, USA. Electronic address: cole_williams@brown.edu.
Jared O'Connell23andMe, Inc., Sunnyvale, CA 94086, USA.
Ethan Jewett23andMe, Inc., Sunnyvale, CA 94086, USA.
William A Freyman23andMe, Inc., Sunnyvale, CA 94086, USA.
23andMe Research Team23andMe, Inc., Sunnyvale, CA 94086, USA.
Christopher R GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz, Aurora, CO 80045, USA.
Sohini RamachandranCenter for Computational Molecular Biology, Brown University, Providence, RI 02912, USA; Department of Ecology, Evolution, and Organismal Biology, Brown University, Providence, RI 02912, USA; Data Science Institute, Brown University, Providence, RI 02912, USA.
Amy L Williams23andMe, Inc., Sunnyvale, CA 94086, USA; Department of Computer Science, Brigham Young University, Provo, UT 84602, USA.

Funding

Population-genetic methods for inferring recent histories and targets of selection in the biobank eraR35GM139628 · NIGMS · BROWN UNIVERSITY · PI Sohini Ramachandran · 2021 to 2026
$2.2M
Scalable methods for the characterization and analysis of families in large genomic datasetsR35GM133805 · NIGMS · CORNELL UNIVERSITY · PI WILLIAMS, AMY LYNNE · 2019 to 2023
$1.6M
Predoctoral Training Program in Biological Data Science at Brown UniversityT32GM128596 · NIGMS · BROWN UNIVERSITY · PI RAMACHANDRAN, SOHINI, SANDSTEDE, BJORN · 2018 to 2022
$1.5M
NIGMS NIH HHS R35 GM133805NIGMS NIH HHS R35 GM139628NIGMS NIH HHS T32 GM128596
6 · The paper itself

Abstract

Haplotype phasing, the process of determining which genetic variants are physically located on the same chromosome, is crucial for genetic analyses. Here, we benchmark SHAPEIT and Beagle, two state-of-the-art phasing methods, on two large datasets: >8 million research-consented 23andMe, Inc. customers and the UK Biobank (UKB). Remarkably, both methods' median switch error rate (SER) (after excluding single SNP switches, which we call "blips") is 0.00% across all tested 23andMe trio children and 0.026% in British samples from UKB. Across UKB samples, switch errors predominantly occur in regions lacking identity-by-descent (IBD) coverage. SHAPEIT and Beagle excel at intra-chromosomal phasing, but lack the ability to phase across chromosomes, motivating us to develop HAPTiC (HAPlotype Tiling and Clustering), an inter-chromosomal phasing method that assigns paternal and maternal variants genome-wide. Our approach uses IBD segments to phase blocks of variants on different chromosomes. HAPTiC represents the segments a focal individual shares with their relatives as nodes in a signed graph and performs spectral clustering. We test HAPTiC on 1,022 UKB trios, yielding a median per-site phase error of 0.13% in regions covered by IBD segments (45.1% of sites). We also ran HAPTiC in the 23andMe database and found a median phase error rate of 0.49% in Europeans (100% of sites) and 0.16% in admixed Africans (99.8% of sites). HAPTiC enables analyses that require the parent-of-origin of variants, such as association studies and ancestry inference of untyped parents.

Indexed as

HaplotypesFemaleGenome, HumanGenome-Wide Association StudyHumansMaleParentsPolymorphism, Single Nucleotidehaplotype phasingidentity-by-descentinheritanceparent-of-originphasingpopulation geneticsstatistical phasing

Identifiers

PMID40702725
PMCPMC12536663

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.