Evidence map›Paper›PMID 39639156›Full record

ArticleNature computational science2025

Enabling efficient analysis of biobank-scale data with genotype representation graphs.

Drew DeHaas, Ziqing Pan, Xinzhu Wei

Abstract read
In one paragraph

Article in Nature computational science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. On ARGs, pedigrees, and genetic relatedness matrices.bioRxiv : the preprint server for biology · 2025
    Article
  9. Analysis-ready VCF at Biobank scale using Zarr.bioRxiv : the preprint server for biology · 2025
    Article
  10. Article
  11. Article
  12. IGD: a simple, efficient genotype data format.Bioinformatics advances · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors.

Drew DeHaas *Department of Computational Biology, Cornell University, Ithaca, NY, USA.ORCID 0009-0005-9087-1831
Ziqing Pan *Department of Computational Biology, Cornell University, Ithaca, NY, USA.ORCID 0000-0002-9327-1912
Xinzhu WeiDepartment of Computational Biology, Cornell University, Ithaca, NY, USA. aprilwei@cornell.edu.ORCID 0000-0001-8184-7016

Funding

Dissecting the genetics and evolution of complex traits using whole-genome genealogiesR35GM150579 · NIGMS · CORNELL UNIVERSITY · PI Xinzhu Wei · 2023 to 2026
$1.5M
NIGMS NIH HHS R35 GM150579U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) R35-GM150579
6 · The paper itself

Abstract

Computational analysis of a large number of genomes requires a data structure that can represent the dataset compactly while also enabling efficient operations on variants and samples. However, encoding genetic data in existing tabular data structures and file formats has become costly and unsustainable. Here we introduce the genotype representation graph (GRG), a fully connected hierarchical data structure that losslessly encodes phased whole-genome polymorphisms. Exploiting variant-sharing across samples enables GRG to compress 200,000 UK Biobank phased human genomes to 5-26 gigabytes per chromosome, also enabling graph-traversal algorithms to reuse computed values in random access memory. Constructing and processing GRG files scales to a million whole genomes. Using allele frequencies and association effects as examples, we show that computation on GRG via graph traversal runs the fastest among all tested alternatives. GRG-based algorithms have the potential to increase the scalability and reduce the cost of analyzing large genomic datasets.

Indexed as

Biological Specimen BanksComputational BiologyGenotypeAlgorithmsDatabases, GeneticGene FrequencyGenome, HumanGenomicsHumansPolymorphism, Single Nucleotide

Identifiers

PMID39639156
PMCPMC12054550

What Socratic holds

Textmetadata
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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.