Lista de obras - Jonathan Marchini - Dominio Público Uruguay

A common biological basis of obesity and nicotine addiction

artículo científico publicado en 2013

A comparison of phasing algorithms for trios and unrelated individuals

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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 ⬇️

artículo científico publicado el 4 de diciembre de 2011

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

artículo científico publicado en 2006

A multiple-phenotype imputation method for genetic studies

artículo científico publicado en 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

artículo científico publicado en 2007

An imputation platform to enhance integration of rice genetic resources

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Comparing algorithms for genotype imputation

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

FDR control in GWAS with population structure

artículo científico publicado en 2020

FDR control in GWAS with population structure

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

Genotype Imputation with Thousands of Genomes ⬇️

artículo científico publicado el 1 de noviembre de 2011

Genotype imputation using the Positional Burrows Wheeler Transform

artículo científico publicado en 2020

HAPGEN2: simulation of multiple disease SNPs

artículo científico publicado en 2011

Haplotype estimation for biobank-scale data sets

artículo científico publicado en 2016

Haplotype estimation using sequencing reads

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Improved whole-chromosome phasing for disease and population genetic studies

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Joint Genotype Calling With Array and Sequence Data ⬇️

artículo científico publicado el 20 de julio de 2012

List of Contributors

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Multicohort analysis of the maternal age effect on recombination

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2018

Tensor decomposition for multiple-tissue gene expression experiments

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

The UK Biobank resource with deep phenotyping and genomic data

artículo científico publicado en 2018

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

artículo científico publicado en 2011

The effects of human population structure on large genetic association studies

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Lista de obras de Jonathan Marchini

A common biological basis of obesity and nicotine addiction

A comparison of phasing algorithms for trios and unrelated individuals

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

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

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

A linear complexity phasing method for thousands of genomes ⬇️

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

A multiple-phenotype imputation method for genetic studies

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

A second generation human haplotype map of over 3.1 million SNPs

An imputation platform to enhance integration of rice genetic resources

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

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

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

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

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

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

Comparing algorithms for genotype imputation

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

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

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

FDR control in GWAS with population structure

FDR control in GWAS with population structure

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

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

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

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

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

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

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

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

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

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

Genotype Imputation with Thousands of Genomes ⬇️

Genotype imputation using the Positional Burrows Wheeler Transform

HAPGEN2: simulation of multiple disease SNPs

Haplotype estimation for biobank-scale data sets

Haplotype estimation using sequencing reads

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

Improved whole-chromosome phasing for disease and population genetic studies

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

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

Joint Genotype Calling With Array and Sequence Data ⬇️

List of Contributors

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

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

Multicohort analysis of the maternal age effect on recombination

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

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

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

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

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

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

Tensor decomposition for multiple-tissue gene expression experiments

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

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

The UK Biobank resource with deep phenotyping and genomic data

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

The effects of human population structure on large genetic association studies

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

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

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

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