Nature Search

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and promoter long-range interactions.

Romina Petersen
John J. Lambourne
Mattia Frontini
ResearchOpen Access13 Jul 2017
Nature Communications

Volume: 8, P: 1-12
Information recovery from low coverage whole-genome bisulfite sequencing

Here, Libertini and colleagues devise a computation tool that can analyze whole-genome bisulfite sequencing (WGBS) data to recover of ∼30% of the lost differential methylation position information. They use COMETgazer and COMETvintage to analyze 13 diffferent methylome data to demonstrate their performance.

Emanuele Libertini
Simon C. Heath
Stephan Beck
ResearchOpen Access27 Jun 2016
Nature Communications

Volume: 7, P: 1-7
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
Genetic coupling of enhancer activity and connectivity in gene expression control

Here, the authors study the effects of expression quantitative trait loci on enhancer activity and promoter contacts in primary monocytes isolated from male individuals, suggesting an inherent genetic link between the activity of enhancers, their contacts to target gene promoters and gene expression.

Helen Ray-Jones
Chak Kei Sung
Mikhail Spivakov
ResearchOpen Access27 Jan 2025
Nature Communications

Volume: 16, P: 1-26
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are associated with cell count and disease susceptibility.

Stephen Watt
Louella Vasquez
Nicole Soranzo
ResearchOpen Access16 Apr 2021
Nature Communications

Volume: 12, P: 1-12
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

The authors identify genetic variation associated with properties of the internal biological structures of blood cells in hundreds of genes and show how such discoveries can be used to improve understanding of cellular mechanisms causing disease.

Parsa Akbari
Dragana Vuckovic
William J. Astle
ResearchOpen Access18 Aug 2023
Nature Communications

Volume: 14, P: 1-19
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Nicole Soranzo, Alexander Reiner, Paul Auer and colleagues use whole-genome sequencing data to impute the genotypes of over 35,000 individuals and perform a genome-wide association study for 20 quantitative cardiometabolic and hematological traits. They find 17 new associations and apply fine-mapping analysis to resolve causal variants for a number of the loci.

Valentina Iotchkova
Jie Huang
Nicole Soranzo
Research26 Sept 2016
Nature Genetics

Volume: 48, P: 1303-1312
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types

The incidence of type 1 diabetes is increasing, potentially implicating non-genetic factors. Here the authors conduct an epigenome-wide association study in disease-discordant twins and find increased DNA methylation variability at genes associated with immune cell metabolism and the cell cycle.

Dirk S. Paul
Andrew E. Teschendorff
R. David Leslie
ResearchOpen Access29 Nov 2016
Nature Communications

Volume: 7, P: 1-11
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Valentina Iotchkova
Jie Huang
Nicole Soranzo
Amendments and Corrections02 Nov 2018
Nature Genetics

Volume: 50, P: 1752
Saturation analysis for whole-genome bisulfite sequencing data

Emanuele Libertini
Simon C Heath
Stephan Beck
Correspondence27 Jun 2016
Nature Biotechnology

Volume: 34, P: 691-693
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
Assessment of a complete and classified platelet proteome from genome-wide transcripts of human platelets and megakaryocytes covering platelet functions

Jingnan Huang
Frauke Swieringa
Johan W. M. Heemskerk
ResearchOpen Access11 Jun 2021
Scientific Reports

Volume: 11, P: 1-18
SMIM1 underlies the Vel blood group and influences red blood cell traits

Ana Cvejic, Willem Ouwehand, Cornelis Albers and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.

Ana Cvejic
Lonneke Haer-Wigman
Cornelis A Albers
Research07 Apr 2013
Nature Genetics

Volume: 45, P: 542-545
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells

Li Chen
Ruirui Yang
Lu Chen
ResearchOpen Access09 Nov 2020
Scientific Data

Volume: 7, P: 1-7
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

Search

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Information recovery from low coverage whole-genome bisulfite sequencing

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

Genetic coupling of enhancer activity and connectivity in gene expression control

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Increased DNA methylation variability in type 1 diabetes across three immune effector cell types

Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Saturation analysis for whole-genome bisulfite sequencing data

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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Assessment of a complete and classified platelet proteome from genome-wide transcripts of human platelets and megakaryocytes covering platelet functions

SMIM1 underlies the Vel blood group and influences red blood cell traits

Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells

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

Search

Quick links

Search

Filter By:

Search

Quick links