Evidence map›Paper›PMID 42711702›Full record

ArticleGenome biology2026

COSIGT: population-scalable genotyping of complex loci from low-coverage sequencing data using pangenome graphs.

Davide Bolognini, Andrea Guarracino, Chiara Paleni, Thomas S Dudley, Licia Iacoviello, Alessandro Raveane, Peter H Sudmant, Erik Garrison, Nicole Soranzo

Abstract read
In one paragraph

Article in Genome biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Davide Bolognini *Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy. davide.bolognini@fht.org.ORCID https://orcid.org/0000-0002-8735-8093
Andrea Guarracino *Bioinnovation and Genome Sciences, The Translational Genomics Research Institute (TGen), Phoenix, 85004, AZ, USA. aguarracino@tgen.org.
Chiara PaleniHuman Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.
Thomas S DudleyHuman Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.
Licia IacovielloResearch Unit of Epidemiology and Prevention, IRCCS Neuromed, Pozzilli, Italy.
Alessandro RaveaneHuman Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.
Peter H SudmantDepartment of Integrative Biology, University of California Berkeley, Berkeley, CA, USA.
Erik Garrison *Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, 71 S Manassas St, 38163, Memphis, Tennessee, USA.
Nicole Soranzo *Human Technopole, Viale Rita Levi-Montalcini 1, 20157, Milan, Italy.

Funding

The evolution and diversity of mutation, molecular fidelity, and genome structureR35GM142916 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI Peter Heshedahl Sudmant · 2021 to 2026
$2.5M
Computational tools for precision genome editingR01HG013618 · NHGRI · BOSTON CHILDREN'S HOSPITAL · PI Daniel Evan Bauer, Luca Pinello · 2024 to 2026
$2.3M
NHGRI NIH HHS R01 HG013618NIGMS NIH HHS R35 GM142916NIH HHS R01HG013618NIH HHS R35GM142916
6 · The paper itself

Abstract

Pangenome graphs capture extensive structural diversity, but resolving complex loci from shallow sequencing remains challenging, particularly when samples are of low quality such as in ancient DNA. We introduce COSIGT (COsine SImilarity-based GenoTyper), which assigns diploid genotypes by matching read-depth distributions to haplotype paths via cosine similarity. Because this metric evaluates relative coverage profiles rather than absolute read counts, COSIGT substantially outperforms existing likelihood-based tools at low coverage (1-2X). We demonstrate scalability to thousands of modern and ancient genomes, enabling robust, population-scale analyses of complex variation directly from low-coverage datasets.

Indexed as

Genotyping TechniquesSoftwareGenetics, PopulationGenotypeHaplotypesHumansSequence Analysis, DNAGenome alignmentGenotypingPangenomesPopulation geneticsSequencing

Identifiers

PMID42711702
PMCPMC13551797

What OpenQuestion holds

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Registered trials

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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.