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List of works by Jonathan Marchini

A common biological basis of obesity and nicotine addiction

scientific article

A comparison of phasing algorithms for trios and unrelated individuals

scientific article

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

scientific article published in June 2009

A general approach for haplotype phasing across the full spectrum of relatedness

scientific article

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A linear complexity phasing method for thousands of genomes ⬇️

scientific article published on December 4, 2011

A model-based approach to capture genetic variation for future association studies

scientific article

A multiple-phenotype imputation method for genetic studies

scientific article published on 22 February 2016

A robust statistical method for case-control association testing with copy number variation

scientific article published on 07 September 2008

A second generation human haplotype map of over 3.1 million SNPs

scientific article

An imputation platform to enhance integration of rice genetic resources

scientific article published in Nature Communications

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

BGEN: a binary file format for imputed genotype and haplotype data

Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array

scientific article published on 18 July 2011

Common variants at five new loci associated with early-onset inflammatory bowel disease

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Comparing algorithms for genotype imputation

scientific article published in October 2008

Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip

scientific article

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

scientific article

Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function

scientific article

FDR control in GWAS with population structure

FDR control in GWAS with population structure

scientific article published on 4 August 2020

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Genome-wide and fine-resolution association analysis of malaria in West Africa

scientific article

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

scientific article published on 26 April 2018

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

scientific article

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

scientific article

Genome-wide association studies of brain imaging phenotypes in UK Biobank

scientific article published in Nature

Genome-wide association studies of brain structure and function in the UK Biobank

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

scientific article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide strategies for detecting multiple loci that influence complex diseases

scientific article

Genotype Imputation with Thousands of Genomes ⬇️

scientific article published on November 1, 2011

Genotype imputation using the Positional Burrows Wheeler Transform

scientific article published on 16 November 2020

HAPGEN2: simulation of multiple disease SNPs

scientific article published on 8 June 2011

Haplotype Estimation Using Sequencing Reads ⬇️

scientific article published on October 3, 2013

Haplotype estimation for biobank-scale data sets

scientific article

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

scientific article

Improved whole-chromosome phasing for disease and population genetic studies

scientific article published in January 2013

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

scientific article

Joint Genotype Calling With Array and Sequence Data ⬇️

scientific article published on July 20, 2012

List of Contributors

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Multicohort analysis of the maternal age effect on recombination

scientific article

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

scientific article

Phasing for medical sequencing using rare variants and large haplotype reference panels

scientific article published on 27 February 2016

RETRACTED ARTICLE: 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

retracted scholarly article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Tensor decomposition for multiple-tissue gene expression experiments

scientific article published on August 2016

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

scientific article

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

The UK Biobank resource with deep phenotyping and genomic data

scientific article published in Nature

The effect of genome-wide association scan quality control on imputation outcome for common variants ⬇️

scientific article published on 26 January 2011

The effects of human population structure on large genetic association studies

scientific article

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

scientific article published on 11 March 2013

The spatial correspondence and genetic influence of inter-hemispheric connectivity with white matter microstructure

The spatial correspondence and genetic influence of interhemispheric connectivity with white matter microstructure

scientific article published on 15 April 2019

Two-stage two-locus models in genome-wide association

scientific article published in September 2006

Unified single-cell analysis of testis gene regulation and pathology in five mouse strains

scientific article published on 25 June 2019

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