Nature Search

Diverse ancestral representation improves genetic intolerance metrics

Here the authors show that expanding global ancestry diversity in genomic datasets improves detection of genomic regions intolerant to variation, identifying areas more likely to harbor disease-causing mutations.

Alexander L. Han
Chloe F. Sands
Ryan S. Dhindsa
ResearchOpen Access18 Mar 2025
Nature Communications

Volume: 16, P: 1-9
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank

MILTON uses phenotype information in the UK Biobank to identify clinical biomarkers and other quantitative traits that characterize diseases. It then constructs augmented cohorts by predicting undiagnosed individuals, improving power to discover gene–disease relationships.

Manik Garg
Marcin Karpinski
Dimitrios Vitsios
ResearchOpen Access11 Sept 2024
Nature Genetics

Volume: 56, P: 1821-1831
Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

Here, the authors leveraged genetic and proteomic information from the UK Biobank and two randomized controlled trials to characterize how polygenic disease risk for T2D and related comorbidities perturbs the plasma proteome and glean therapeutic insights.

Douglas P. Loesch
Manik Garg
Michael Inouye
ResearchOpen Access03 Mar 2025
Nature Communications

Volume: 16, P: 1-16
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

Intolerance to variation is a strong indicator of disease relevance for coding regions of the human genome. Here, the authors present JARVIS, a deep learning method integrating intolerance to variation in non-coding regions and sequence-specific annotations to infer non-coding variant pathogenicity.

Dimitrios Vitsios
Ryan S. Dhindsa
Slavé Petrovski
ResearchOpen Access08 Mar 2021
Nature Communications

Volume: 12, P: 1-14
DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

DrugnomeAI predicts the druggability likelihood for every protein-coding gene in the human exome by small molecules, monoclonal antibodies, and proteolysis-targeting chimeras (PROTACs).

Arwa Raies
Ewa Tulodziecka
Dimitrios Vitsios
ResearchOpen Access24 Nov 2022
Communications Biology

Volume: 5, P: 1-16
Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

Arwa Raies
Ewa Tulodziecka
Dimitrios Vitsios
Amendments and CorrectionsOpen Access11 Jul 2023
Communications Biology

Volume: 6, P: 1
A MILI-independent piRNA biogenesis pathway empowers partial germline reprogramming

MILI-mediated piRNA processing and amplification is not essential for all MIWI2 male germline reprogramming activity, indicating the existence of a MILI-independent piRNA biogenesis pathway.

Lina Vasiliauskaitė
Dimitrios Vitsios
Dónal O'Carroll
Research22 May 2017
Nature Structural & Molecular Biology

Volume: 24, P: 604-606
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

Genome-wide association analysis of an improved telomere length score, calculated from quantitative PCR and whole-genome sequencing measurements in 462,666 individuals in the UK Biobank, identifies novel genes and variants underlying this trait.

Oliver S. Burren
Ryan S. Dhindsa
Slavé Petrovski
ResearchOpen Access27 Aug 2024
Nature Genetics

Volume: 56, P: 1832-1840
Rare variant associations with plasma protein levels in the UK Biobank

A set of three papers in Nature reports a new proteomics resource from the UK Biobank and initial analysis of common and rare genetic variant associations with plasma protein levels.

Ryan S. Dhindsa
Oliver S. Burren
Slavé Petrovski
ResearchOpen Access04 Oct 2023
Nature

Volume: 622, P: 339-347
Rare variant contribution to human disease in 281,104 UK Biobank exomes

The authors analyse rare protein-coding genetic variants for association with 18,780 traits in the UK Biobank cohort.

Quanli Wang
Ryan S. Dhindsa
Slavé Petrovski
ResearchOpen Access10 Aug 2021
Nature

Volume: 597, P: 527-532
In situ functional dissection of RNA cis-regulatory elements by multiplex CRISPR-Cas9 genome engineering

RNA regulatory elements (RREs) are important post-transcriptional control features but studying them requires disrupting their activity without disturbing cellular homeostasis. Here the authors present GenERA, a CRISPR-Cas9 screening platform of in situ analysis of native RREs.

Qianxin Wu
Quentin R. V. Ferry
Tudor A. Fulga
ResearchOpen Access13 Dec 2017
Nature Communications

Volume: 8, P: 1-17
mRNA 3′ uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome

TUT4 and TUT7 mediate 3′ uridylation of mRNA transcripts, preferentially those with short poly(A) tails; in the absence of TUT4 and TUT7, oocytes cannot mature and female mice are infertile.

Marcos Morgan
Christian Much
Dónal O’Carroll
Research09 Aug 2017
Nature

Volume: 548, P: 347-351
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.

Ryan S. Dhindsa
Johan Mattsson
Slavé Petrovski
ResearchOpen Access23 Mar 2021
Communications Biology

Volume: 4, P: 1-8
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Charles A. Steward
Jolien Roovers
Adam Frankish
ResearchOpen Access02 Dec 2019
npj Genomic Medicine

Volume: 4, P: 1-11
A programmed wave of uridylation-primed mRNA degradation is essential for meiotic progression and mammalian spermatogenesis

Marcos Morgan
Yuka Kabayama
Dónal O’Carroll
ResearchOpen Access07 Jan 2019
Cell Research

Volume: 29, P: 221-232

Search

Diverse ancestral representation improves genetic intolerance metrics

Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

A MILI-independent piRNA biogenesis pathway empowers partial germline reprogramming

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

Rare variant associations with plasma protein levels in the UK Biobank

Rare variant contribution to human disease in 281,104 UK Biobank exomes

In situ functional dissection of RNA cis-regulatory elements by multiplex CRISPR-Cas9 genome engineering

mRNA 3′ uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

A programmed wave of uridylation-primed mRNA degradation is essential for meiotic progression and mammalian spermatogenesis

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