Nature Search

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Multistage gene burden analysis in exome sequencing data from 32,558 individuals identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.

Henne Holstege
Marc Hulsman
Jean-Charles Lambert
ResearchOpen Access21 Nov 2022
Nature Genetics

Volume: 54, P: 1786-1794
Natural occurrence of 2-5A in interferon-treated EMC virus-infected L cells

B. R. G. Williams
R. R. Golgher
I. M. Kerr
Research06 Dec 1979
Nature

Volume: 282, P: 582-586
Nature of inhibitor of cell-free protein synthesis formed in response to interferon and double-stranded RNA

IAN M. KERR
RONALD E. BROWN
ARA G. HOVANESSIAN
Research11 Aug 1977
Nature

Volume: 268, P: 540-542
Dynamicasome—a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations

AI models integrating molecular dynamics data improve pathogenicity prediction in PMM2 mutations, which can outperform existing tools and helps in classifying variants of uncertain significance aiding genomic translational medicine.

Naeyma N. Islam
Mathew A. Coban
Thomas R. Caulfield
ResearchOpen Access07 Jul 2025
Communications Biology

Volume: 8, P: 1-14
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Exome analysis links kidney malformations to developmental disorders and reveals causal genes

The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, along with 38 candidate genes, providing evidence for shared genetics with other developmental disorders.

Hila Milo Rasouly
Sarath Babu Krishna Murthy
Ali G. Gharavi
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-16
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP

Multiplexed assays of variant effect can resolve clinical variants but are incompatible with secreted proteins. Here Popp et al. develop MultiSTEP, a generalizable surface-tethering method to assess variant effects in secreted proteins at scale.

Nicholas A. Popp
Rachel L. Powell
Douglas M. Fowler
Research13 Jun 2025
Nature Structural & Molecular Biology

P: 1-13
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

C. Cubuk
A. Garrett
CanVIG-UK
ResearchOpen Access06 Jul 2021
Genetics in Medicine

Volume: 23, P: 2096-2104
Formation of the Initiation Complex using Muscle Messenger RNAs

STUART M. HEYWOOD
Research21 Feb 1970
Nature

Volume: 225, P: 696-698
Factors for the Initiation of Haemoglobin Synthesis by Rabbit Reticulocyte Ribosomes

P. M. PRICHARD
J. M. GILBERT
W. F. ANDERSON
Research09 May 1970
Nature

Volume: 226, P: 511-514
Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer’s disease and a cumulative effects model for risk liability

Here the authors reveal via whole genome sequencing of an East Asian AD cohort a common variant locus (APCDD1), rare noncoding variants in excitatory neurons, and short tandem repeat expansions, suggesting a cumulative effects model for Alzheimer’s risk.

Jun Pyo Kim
Minyoung Cho
Hong-Hee Won
ResearchOpen Access26 May 2025
Nature Communications

Volume: 16, P: 1-18
Integration of germline pharmacogenomic burden to predict fluoropyrimidine-related toxicity – A secondary analysis of the PREPARE trial

Elena De Mattia
Yoomi Park
Erika Cecchin
Research25 Sept 2025
Oncogene

P: 1-11
Constitutive expression of (2′–5′) oligo A synthetase confers resistance to picornavirus infection

J. Chebath
P. Benech
M. Vigneron
Research10 Dec 1987
Nature

Volume: 330, P: 587-588
Ribonuclease V of Escherichia coli requires Ribosomes and is Inhibited by Drugs

M. KUWANO
D. SCHLESSINGER
D. APIRION
Research09 May 1970
Nature

Volume: 226, P: 514-516
Inferring compound heterozygosity from large-scale exome sequencing data

A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

Michael H. Guo
Laurent C. Francioli
Kaitlin E. Samocha
Research06 Dec 2023
Nature Genetics

Volume: 56, P: 152-161
Mechanism of Lymphocyte Transformation induced by Phytohaemagglutinin

M. J. SIMONS
R. FOWLER
M. G. FITZGERALD
Research07 Sept 1968
Nature

Volume: 219, P: 1021-1025
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to provide evidence of variant pathogenicity.

Maria Zanti
Denise G. O’Mahony
Kyriaki Michailidou
ResearchOpen Access25 May 2025
Nature Communications

Volume: 16, P: 1-18
A framework for individualized splice-switching oligonucleotide therapy

Whole-genome sequencing analyses in a cohort of individuals with ataxia-telangiectasia are used to identify genetic variants that might be amenable to treatment with splice-switching antisense oligonucleotides (ASOs), and develop ASOs with therapeutic potential.

Jinkuk Kim
Sijae Woo
Timothy W. Yu
ResearchOpen Access12 Jul 2023
Nature

Volume: 619, P: 828-836
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes

In clinical and population-based cohorts, a strong contribution of polygenic risk for type 2 diabetes (T2D) significantly modifies the onset and phenotypic variability of maturity-onset diabetes of the young (MODY). This polygenic T2D burden may also account for MODY-like individuals without identified monogenic causes.

Jacques Murray Leech
Robin N. Beaumont
Kashyap A. Patel
ResearchOpen Access09 Sept 2025
Nature Metabolism

Volume: 7, P: 1819-1829
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Here the authors identify TNIP1 as a risk factor for a fatal neurodegenerative disorder and discover specific genetic loci associated with the three main subtypes of this disorder. The findings highlight distinct disease mechanisms, emphasizing the roles of immunity and the notch signaling pathway.

Cyril Pottier
Fahri Küçükali
Rosa Rademakers
ResearchOpen Access25 Apr 2025
Nature Communications

Volume: 16, P: 1-19
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Analysis of 10,900 whole-exome sequences linked to electronic health care records in the Penn Medicine Biobank enabled an exome-wide study of the phenotypic effects of rare loss-of-function gene variants, identifying new gene–disease associations that replicated across other biobanks.

Joseph Park
Anastasia M. Lucas
Daniel J. Rader
Research11 Jan 2021
Nature Medicine

Volume: 27, P: 66-72
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

Joseph Park
Michael G. Levin
Daniel J. Rader
Research06 Aug 2019
Genetics in Medicine

Volume: 22, P: 102-111
Function of Three Protein Factors and Ribosomal Subunits in the Initiation of Protein Synthesis in E. coli

M. REVEL
J. C. LELONG
F. GROS
Research07 Sept 1968
Nature

Volume: 219, P: 1016-1021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Rare variants in the gene encoding PHGDH, the rate-limiting enzyme in de novo serine biosynthesis, are identified as responsible for serine deficiency associated with the macular degenerative disease MacTel.

Kevin Eade
Marin L. Gantner
Rando Allikmets
Research22 Mar 2021
Nature Metabolism

Volume: 3, P: 366-377
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts

K. Choi
M. Huang
J. Savige
ResearchOpen Access18 Mar 2025
Scientific Reports

Volume: 15, P: 1-8
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Xiaolei Zhang
Roddy Walsh
James S. Ware
ResearchOpen Access13 Oct 2020
Genetics in Medicine

Volume: 23, P: 69-79
Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

Eman E. A. Mohammed
Alaaeldin G. Fayez
Ekram Fateen
ResearchOpen Access27 May 2024
Scientific Reports

Volume: 14, P: 1-9
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis

This paper compares the frequency and genetic basis of clonal hematopoiesis in 136,401 admixed American participants from the Mexico City Prospective Cohort with 416,118 largely European ancestry individuals from the UK Biobank cohort.

Sean Wen
Pablo Kuri-Morales
Jonathan Mitchell
ResearchOpen Access13 Feb 2025
Nature Genetics

Volume: 57, P: 572-582
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking. Here, the authors evaluated mutational signatures that could distinguish MUTYH carriers in large CRC cohorts, and found MUTYH-associated somatic mutations.

Peter Georgeson
Tabitha A. Harrison
Daniel D. Buchanan
ResearchOpen Access06 Jun 2022
Nature Communications

Volume: 13, P: 1-12
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

Somatic variants in certain genes can cause lesional focal epilepsy. Here the authors perform the largest somatic variant detection study in epilepsy to date, finding statistical support for 8 known and 2 novel genes, DYRK1A and EGFR, which may be potential biomarkers and druggable targets.

Christian M. Boßelmann
Costin Leu
Dennis Lal
ResearchOpen Access30 Nov 2024
Nature Communications

Volume: 15, P: 1-10
New Type of Restriction to the Expression of a Structural Gene in Bacteria

M. H. RICHMOND
Research01 Dec 1967
Nature

Volume: 216, P: 1191-1192
A map of constrained coding regions in the human genome

This study leverages coding variation observed among 123,136 individuals to create a detailed map of constrained coding regions in the human genome. This map may help identify critical regions within genes that, when mutated, cause embryonic lethality or severe developmental phenotypes.

James M. Havrilla
Brent S. Pedersen
Aaron R. Quinlan
Research10 Dec 2018
Nature Genetics

Volume: 51, P: 88-95
Case of early onset Alzheimer’s disease associated with a novel PSEN1 variant identified in Colombia

Lina M. Zapata-Restrepo
Bruce L. Miller
Kenneth S. Kosik
ResearchOpen Access10 Oct 2025
npj Dementia

Volume: 1, P: 1-6
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Analyses of whole-exome sequencing data identify rare loss-of-function variants in BSN associated with adult-onset obesity, type 2 diabetes and fatty liver disease, with stronger effect sizes than those observed for variants in known obesity risk genes such as MC4R.

Yajie Zhao
Maria Chukanova
John R. B. Perry
ResearchOpen Access04 Apr 2024
Nature Genetics

Volume: 56, P: 579-584
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

An integrated analysis of de novo and inherited coding variants in 42,607 individuals with autism spectrum disorder identifies 60 risk genes of which five have not previously been associated with neurodevelopmental disorders.

Xueya Zhou
Pamela Feliciano
Wendy K. Chung
ResearchOpen Access18 Aug 2022
Nature Genetics

Volume: 54, P: 1305-1319
Actinomycin D and Messenger-RNA Turnover

ANTHONY C. TRAKATELLIS
A. E. AXELROD
M. MONTJAR
Research12 Sept 1964
Nature

Volume: 203, P: 1134-1136
Transcriptional fidelity of histone genes injected into Xenopus oocyte nuclei

Ch. Hentschel
E. Probst
M. L. Birnstiel
Research06 Nov 1980
Nature

Volume: 288, P: 100-102
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension

Sofia Karl
Ekkehard Grünig
Christina A. Eichstaedt
ResearchOpen Access25 Mar 2025
npj Genomic Medicine

Volume: 10, P: 1-9
Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models

This study on the genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies macaque models for inherited human retinal and neurodevelopment diseases.

Jun Wang
Meng Wang
Rui Chen
ResearchOpen Access05 Jul 2024
Nature Communications

Volume: 15, P: 1-12
The contribution of de novo coding mutations to meningomyelocele

Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure.

Yoo-Jin Jiny Ha
Ashna Nisal
Joseph G. Gleeson
Research26 Mar 2025
Nature

Volume: 641, P: 419-426
Double-stranded RNA synthesized in Animal Cells in the Presence of Actinomycin D

ROBERT STERN
ROBERT M. FRIEDMAN
Research16 May 1970
Nature

Volume: 226, P: 612-616
Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing

Zhou et al. evaluate the predictive performance of 54 variant pathogenicity prediction tools using genomic data of advanced prostate cancer. MetaSVM, CADD, and Eigen-raw provide strong performance across ancestries, while others like MutationTaster and DANN were African-specific, with lower sensitivity for African data.

Kangping Zhou
Kazzem Gheybi
Vanessa M. Hayes
ResearchOpen Access06 May 2025
Communications Medicine

Volume: 5, P: 1-10
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients

Christopher M H Bruenger
Frank Oeffner
Johannes Schumacher
ResearchOpen Access11 Jul 2025
European Journal of Human Genetics

Volume: 33, P: 1203-1206
Echinomycin: a bifunctional intercalating antibiotic

M. J. Waring
L. P. G. Wakelin
Research20 Dec 1974
Nature

Volume: 252, P: 653-657
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Jennifer J. Johnston
Robert T. Dirksen
Leslie G. Biesecker
Research25 Mar 2021
Genetics in Medicine

Volume: 23, P: 1288-1295
Membrane-Like Structures Within The Sarcoplasmic Reticulum

S. M. WALKER
G. R. SCHRODT
Research10 Apr 1965
Nature

Volume: 206, P: 150-154
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

In this Review, Roden and co-workers describe how multiplexed assays of variant effects can be used for high-throughput functional assessment of nearly all coding variants in a target sequence to improve variant annotation for cardiovascular-related genes and to resolve the problem of classification as variants of uncertain significance. They also discuss how variant effect predictors can be integrated with multiplexed methods to inform cardiovascular genomic medicine.

Andrew M. Glazer
Daniel R. Tabet
Dan M. Roden
Reviews01 Sept 2025
Nature Reviews Cardiology

P: 1-15
Antibodies to a cell-surface component coded by human chromosome 21 inhibit action of interferon

M. REVEL
D. BASH
F. H. RUDDLE
Research11 Mar 1976
Nature

Volume: 260, P: 139-141
Analysis of clinically relevant variants from ancestrally diverse Asian genomes

Clinically significant genetic variation in Asian populations is under-characterized. Here, the authors show the diversity in prevalence and spectrum of human disease and pharmacogenetic variants in a multi-ethnic Asian population.

Sock Hoai Chan
Yasmin Bylstra
Weng Khong Lim
ResearchOpen Access05 Nov 2022
Nature Communications

Volume: 13, P: 1-15
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program

A genome-wide association study of thoracic aortic aneurysms and dissections (TAAD) in the Million Veteran Program identifies 17 new risk loci and demonstrates that the genetic architecture of TAAD mirrors that of other complex traits.

Derek Klarin
Poornima Devineni
Scott M. Damrauer
ResearchOpen Access12 Jun 2023
Nature Genetics

Volume: 55, P: 1106-1115

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