Nature Search

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Multiple myeloma is a cancer of the plasma cells, and the complete aetiology of the disease is still unclear. Here the authors perform an additional GWAS analysis followed by a meta-analysis with existing GWAS and replication genotyping and identify 6 novel risk loci and utilise gene expression, epigenetic profiling and in situ Hi-C data to further our understanding of MM susceptibility.

Molly Went
Amit Sud
Stephen N. Thibodeau
ResearchOpen Access13 Sept 2018
Nature Communications

Volume: 9, P: 1-10
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
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
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Classical Hodgkin lymphoma is a cancer that originates in lymph nodes. Little is known about its genetic susceptibility. Here, the authors combined existing and new genome-wide association studies to identify risk loci for classical Hodgkin lymphoma at 6q22.33, and nodular sclerosis Hodgkin lymphoma at 3q28, 6q23.3, 10p14, 13q34, 16p13.13.

Amit Sud
Hauke Thomsen
Richard S. Houlston
ResearchOpen Access01 Dec 2017
Nature Communications

Volume: 8, P: 1-11
Thymidine kinase gene therapy with concomitant topotecan chemotherapy for recurrent ovarian cancer

Annette Hasenburg
Xiao-Wen Tong
Dirk G Kieback
Research15 Jun 2000
Cancer Gene Therapy

Volume: 7, P: 839-844
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

Colm O'Dushlaine
Lizzy Rossin
Gerome Breen
Research19 Jan 2015
Nature Neuroscience

Volume: 18, P: 199-209
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Molly Went
Amit Sud
Richard S. Houlston
Amendments and CorrectionsOpen Access10 Jan 2019
Nature Communications

Volume: 10, P: 1-3
Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

Amit Sud
Hauke Thomsen
Richard S. Houlston
Amendments and CorrectionsOpen Access08 Jan 2019
Nature Communications

Volume: 10, P: 1-3
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc
Rafik Tadros
Connie R. Bezzina
Amendments and Corrections26 Apr 2022
Nature Genetics

Volume: 54, P: 735
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism.

Julien Barc
Rafik Tadros
Connie R. Bezzina
Research24 Feb 2022
Nature Genetics

Volume: 54, P: 232-239
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

S Hong Lee
Stephan Ripke
Naomi R Wray
Research11 Aug 2013
Nature Genetics

Volume: 45, P: 984-994
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
AusTraits, a curated plant trait database for the Australian flora

Daniel Falster
Rachael Gallagher
Kasia Ziemińska
ResearchOpen Access30 Sept 2021
Scientific Data

Volume: 8, P: 1-20

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