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
Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis

Nprl3 controls erythroblast metabolism and is upregulated by α -globin enhancers sited within its introns. This arrangement couples metabolic and developmental control during erythropoiesis and may explain the ancient synteny of α -globin with Nprl3.

Alexandra E. Preston
Joe N. Frost
Hal Drakesmith
ResearchOpen Access24 Mar 2025
Nature Communications

Volume: 16, P: 1-15
Reduced Hepatic Bilirubin Uridine Diphosphate Glucuronyl Transferase and Uridine Diphosphate Glucose Dehydrogenase Activity in the Human Fetus

Bertram F Felsher
Jack E Maidman
Morton M Woolley
Research01 Aug 1978
Pediatric Research

Volume: 12, P: 838-840
Direct correction of haemoglobin E β-thalassaemia using base editors

The authors demonstrate efficient and direct correction of the DNA mutation causing Haemoglobin E β-thalassaemia with CRISPR Cas9 base editors. The work includes profiling of off-target effects using deep neural networks.

Mohsin Badat
Ayesha Ejaz
James O. J. Davies
ResearchOpen Access19 Apr 2023
Nature Communications

Volume: 14, P: 1-7
Retymicin, Galtamycin B, Saquayamycin Z and Ribofuranosyllumichrome, Novel Secondary Metabolites from Micromonospora sp. Tü 6368

Karsten Ströch
Axel Zeeck
Hans-Peter Fiedler
Research01 Feb 2005
The Journal of Antibiotics

Volume: 58, P: 103-110
Retymicin, Galtamycin B, Saquayamycin Z and Ribofuranosyllumichrome, Novel Secondary Metabolites from Micromonospora sp. Tü 6368

Noémi Antal
Hans-Peter Fiedler
Axel Zeeck
Research01 Feb 2005
The Journal of Antibiotics

Volume: 58, P: 95-102
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
Structural basis for terminal loop recognition and stimulation of pri-miRNA-18a processing by hnRNP A1

hnRNP A1 is an auxiliary factor that promotes the Microprocessor-mediated processing of pri-mir-18a, of the oncomiR-1 cluster. Here the authors employ an integrative structural biology approach and provide insights into the molecular mechanism of how hnRNP A1 facilitates pri-mir-18a biogenesis.

Hamed Kooshapur
Nila Roy Choudhury
Michael Sattler
ResearchOpen Access26 Jun 2018
Nature Communications

Volume: 9, P: 1-17
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
The Microprocessor controls the activity of mammalian retrotransposons

How the activity of transposable elements is regulated is not well understood. A new study now shows that the Microprocessor complex, which is required for microRNA biogenesis, also recognizes and binds RNAs derived from human LINE-1, Alu and SVA retrotransposons and that it acts as a post-transcriptional repressor of mammalian retrotransposons in vivo.

Sara R Heras
Sara Macias
Javier F Cáceres
Research01 Sept 2013
Nature Structural & Molecular Biology

Volume: 20, P: 1173-1181
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

José-Manuel Casas-Rojo
Juan-Miguel Antón-Santos
Hector Meijide Míguez
ResearchOpen Access18 Oct 2023
Scientific Reports

Volume: 13, P: 1-18
Medical science must address health disparities amongst different ethnic groups

COVID-19 vaccine hesitancy amongst Black, Asian and minority ethnic (BAME) groups has recently been well observed, and is symptomatic of wider health inequalities. An approach that unites insights from sociology and medicine is the only way to address this pressing issue.

Norris E. Igbineweka
Nomathamsanqa Tshuma
Noémi B. A. Roy
Comments & Opinion22 Nov 2021
Nature Human Behaviour

Volume: 5, P: 1595-1597
Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

Crhistian-Mario Oblitas
Pablo Demelo-Rodríguez
Hector Meijide Míguez
ResearchOpen Access05 Mar 2025
Scientific Reports

Volume: 15, P: 1-13
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
Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants

Robert P. Igo Jr.
Noémi B. Hall
Catherine M. Stein
Research13 Aug 2018
Genes & Immunity

Volume: 20, P: 473-483
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

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

Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis

Reduced Hepatic Bilirubin Uridine Diphosphate Glucuronyl Transferase and Uridine Diphosphate Glucose Dehydrogenase Activity in the Human Fetus

Direct correction of haemoglobin E β-thalassaemia using base editors

Retymicin, Galtamycin B, Saquayamycin Z and Ribofuranosyllumichrome, Novel Secondary Metabolites from Micromonospora sp. Tü 6368

Retymicin, Galtamycin B, Saquayamycin Z and Ribofuranosyllumichrome, Novel Secondary Metabolites from Micromonospora sp. Tü 6368

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Structural basis for terminal loop recognition and stimulation of pri-miRNA-18a processing by hnRNP A1

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

The Microprocessor controls the activity of mammalian retrotransposons

Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

Medical science must address health disparities amongst different ethnic groups

Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

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