Evidence map›Paper›PMID 42167238›Full record

ArticleAmerican journal of human genetics2026

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.

Paras Garg, Bharati Jadhav, Mariya Shadrina, Alejandro Martin-Trujillo, Andrew J Sharp

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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

5 authors.

Paras GargDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Bharati JadhavDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Mariya ShadrinaDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Alejandro Martin-TrujilloDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Andrew J SharpDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA. Electronic address: andrew.sharp@mssm.edu.

Funding

A comprehensive study of tandem repeat variation as a cause of Alzheimer's diseaseRF1AG075051 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SHARP, ANDREW JAMES · 2023 to 2023
$2.2M
A comprehensive study of tandem repeat variation as a cause of Alzheimer's diseaseR01AG075051 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Andrew James Sharp · 2026 to 2026
$730k
NIA NIH HHS R01 AG075051NIA NIH HHS RF1 AG075051
6 · The paper itself

Abstract

We developed a read-depth-based approach that allows accurate and scalable copy-number genotyping from genome sequencing data, including mosaic, recurrent, and multiallelic copy-number variants (CNVs) that are difficult to genotype using other methods. We genotyped each 5-kb segment throughout the genome in the UK Biobank cohort and performed phenome-wide association studies (PheWASs) using 13,215 traits under three different association models, identifying 501 CNVs associated with 1,537 traits. Of these, almost 75% were not found by comparable single-nucleotide variant (SNV)-based PheWASs. We detected signals with multiallelic CNVs, including a coding repeat within MUC1 (mucin 1, cell-surface associated) associated with stomach/duodenal polyps (p = 7.7 × 10

Indexed as

DNA Copy Number VariationsGenome, HumanGenome-Wide Association StudyPhenomicsBiological Specimen BanksFemaleGenotypeHumansMalePhenotypePolymorphism, Single NucleotideUK BiobankUnited KingdomWhole Genome Sequencingcopy numberPheWASstructural variation

Identifiers

PMID42167238
PMCPMC13241002

What Socratic holds

Textmetadata
LicenceTDM
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.