Nature Search

Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
Selection and adaptive introgression guided the complex evolutionary history of the European common bean

Common bean has two distinct domestication centers in Mesoamerica and in the Andes. The authors show that the Andean is the first gene pool successfully introduced in Europe and identify signature of pervasive introgression among gene pools and of selection for flowering underlying adaptation.

Elisa Bellucci
Andrea Benazzo
Roberto Papa
ResearchOpen Access05 Apr 2023
Nature Communications

Volume: 14, P: 1-15
Adaptive gene loss in the common bean pan-genome during range expansion and domestication

Common bean is an evolutionary model for studying adaptive diversity in legumes. Here, the authors present the common bean pangenome based on five high-quality genomes and whole-genome reads of 339 wild and domesticated genotypes, and reveal adaptive gene loss during expansion and domestication.

Gaia Cortinovis
Leonardo Vincenzi
Roberto Papa
ResearchOpen Access07 Aug 2024
Nature Communications

Volume: 15, P: 1-15
Leveraging a phased pangenome for haplotype design of hybrid potato

A phased pangenome of potato constructed from 60 wild and cultivated haplotypes shows that substantial hybridization occurred during domestication and enables identification of many putative deleterious variants, providing a basis for the design of improved inbred lines.

Lin Cheng
Nan Wang
Sanwen Huang
ResearchOpen Access22 Jan 2025
Nature

Volume: 640, P: 408-417
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.

Stefan Gräf
Matthias Haimel
Nicholas W. Morrell
ResearchOpen Access12 Apr 2018
Nature Communications

Volume: 9, P: 1-16
Author Correction: Adaptive gene loss in the common bean pan-genome during range expansion and domestication

Gaia Cortinovis
Leonardo Vincenzi
Roberto Papa
Amendments and CorrectionsOpen Access08 Oct 2024
Nature Communications

Volume: 15, P: 1
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Peter H. Dixon
Adam P. Levine
Catherine Williamson
ResearchOpen Access17 Aug 2022
Nature Communications

Volume: 13, P: 1-18
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Progressive diseases tend to be heterogeneous in their underlying aetiology mechanism, disease manifestation, and disease time course. Here, Young and colleagues devise a computational method to account for both phenotypic heterogeneity and temporal heterogeneity, and demonstrate it using two neurodegenerative disease cohorts.

Alexandra L Young
Razvan V Marinescu
Ansgar J Furst
ResearchOpen Access15 Oct 2018
Nature Communications

Volume: 9, P: 1-16
The population genetics of structural variants in grapevine domestication

This study identified structural variants in grapevine populations, including wild progenitors, using a de novo assembly and comparative genomics approach, and examined their evolutionary genomics and roles in domestication and phenotypic evolution.

Yongfeng Zhou
Andrea Minio
Brandon S. Gaut
Research09 Sept 2019
Nature Plants

Volume: 5, P: 965-979
Mechanically induced Ca²⁺ oscillations in osteocytes release extracellular vesicles and enhance bone formation

Andrea E. Morrell
Genevieve N. Brown
X. Edward Guo
ResearchOpen Access19 Mar 2018
Bone Research

Volume: 6, P: 1-11
Growth, Insulin-Like Growth Factor I (IGF-I), and IGF-Binding Proteins 1 and 3 in Children with Severe Liver Disease before and after Liver Transplantation: A Longitudinal and Cross-Sectional Study

Fabio Buzi
Anna Maria Bontempelli
Michael A Preece
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 478-483
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2

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