List of works - Sarah E. Hunt

A comparison of tagging methods and their tagging space

scientific article published on 15 August 2005

A computational model of flow and species transport in the mesangium

scientific article published on 14 October 2015

A first-generation linkage disequilibrium map of human chromosome 22

scientific article published in Nature

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

scientific article published on 05 February 2009

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms

scientific article

A physical map of 30,000 human genes

scientific article published on October 1998

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

scientific article published on 01 July 2019

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization

scientific article published in January 2004

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

An SNP map of human chromosome 22.

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

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

scientific article

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder

scientific article

Common VKORC1 and GGCX polymorphisms associated with warfarin dose

scientific article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

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

scientific article

Complete MHC haplotype sequencing for common disease gene mapping

scientific article published on 12 May 2004

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

scientific article published on 10 February 2022

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

scientific article published on April 2003

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

scientific article

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples

scientific article published on 14 September 2004

Ensembl 2013

scientific article

Ensembl 2014

scientific article

Ensembl 2015

scientific article (publication date: 2015)

Ensembl 2016

scientific article

Ensembl 2017

scientific article

Ensembl 2018.

scientific article published on 16 November 2017

Ensembl 2019

scientific article published on 01 January 2019

Ensembl 2020

scientific article published on 01 January 2020

Ensembl 2021

scientific article published on 02 November 2020

Ensembl 2022

scientific article published on 19 October 2021

Ensembl 2023

scientific article published in November 2022

Ensembl 2024

scientific article published on 11 November 2023

Ensembl Genomes 2020-enabling non-vertebrate genomic research

scientific article published on 01 January 2020

Ensembl variation resources

article

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

scientific article published on 30 May 2019

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

scientific article published on 22 June 2010

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

scientific article published on 27 April 2008

Genetic evidence of assortative mating in humans

article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes

scientific article published in April 2004

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

scientific article published on November 2005

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

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

scientific article

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

scientific article

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide associations of gene expression variation in humans

scientific article

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

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

Highly parallel SNP genotyping

scientific article published in January 2003

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study ⬇️

scientific article published on July 3, 2012

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

scientific article (publication date: 28 December 2004)

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes

scientific article published on 13 May 2004

Multiple common variants for celiac disease influencing immune gene expression

scientific article

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

scientific article published on 26 August 2008

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The Ensembl Variant Effect Predictor

scientific article published on 06 June 2016

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

scientific article published on 10 November 2021

The GENCODE exome: sequencing the complete human exome

scientific article

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The fine-scale structure of recombination rate variation in the human genome

scientific article

The impact of SNP density on fine-scale patterns of linkage disequilibrium

scientific article published on 20 January 2004

The influence of recombination on human genetic diversity

scientific article

The nucleotide sequence of Saccharomyces cerevisiae chromosome IX.

scientific article published on May 1997

The nucleotide sequence of Saccharomyces cerevisiae chromosome XIII.

scientific article published on May 1997

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

scientific article published in Nature

The portability of tagSNPs across populations: a worldwide survey

scientific article published on 8 February 2006

Thigh muscle strength in senior athletes and healthy controls

scientific article published on December 2009

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Variants in MTNR1B influence fasting glucose levels

scientific article

Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q

article

List of works by Sarah E. Hunt

A comparison of tagging methods and their tagging space

A computational model of flow and species transport in the mesangium

A first-generation linkage disequilibrium map of human chromosome 22

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms

A physical map of 30,000 human genes

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

A second generation human haplotype map of over 3.1 million SNPs

A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

An SNP map of human chromosome 22.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

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

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder

Common VKORC1 and GGCX polymorphisms associated with warfarin dose

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

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

Complete MHC haplotype sequencing for common disease gene mapping

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples

Ensembl 2013

Ensembl 2014

Ensembl 2015

Ensembl 2016

Ensembl 2017

Ensembl 2018.

Ensembl 2019

Ensembl 2020

Ensembl 2021

Ensembl 2022

Ensembl 2023

Ensembl 2024

Ensembl Genomes 2020-enabling non-vertebrate genomic research

Ensembl variation resources

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Genetic evidence of assortative mating in humans

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

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

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genome-wide associations of gene expression variation in humans

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

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Highly parallel SNP genotyping

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study ⬇️

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

Integrating common and rare genetic variation in diverse human populations

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

Large-scale association analysis identifies new risk loci for coronary artery disease

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes

Multiple common variants for celiac disease influencing immune gene expression

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

The DNA sequence of the human X chromosome

The Ensembl Variant Effect Predictor

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification