2019 - Fellow of the Royal Society, United Kingdom
Member of the European Molecular Biology Organization (EMBO)
Fellow of The Academy of Medical Sciences, United Kingdom
Matthew E. Hurles spends much of his time researching Genetics, Human genome, Copy-number variation, Genomics and Genome. Single-nucleotide polymorphism, Structural variation, Genome-wide association study, Genetic variation and Gene are the primary areas of interest in his Genetics study. The study incorporates disciplines such as Exome sequencing, Human genetic variation, Medical genetics, Genetic association and Imputation in addition to Genome-wide association study.
In his work, Gene mapping and Deletion mapping is strongly intertwined with International HapMap Project, which is a subfield of Copy-number variation. His study looks at the intersection of Genomics and topics like Computational biology with Whole genome sequencing and Genomic Structural Variation. His study in Genome is interdisciplinary in nature, drawing from both Evolutionary biology, DNA sequencing and Mutation.
His scientific interests lie mostly in Genetics, Gene, Human genome, Exome sequencing and Copy-number variation. His is doing research in Exome, Genome, Single-nucleotide polymorphism, Mutation and Genomics, both of which are found in Genetics. His Genome research focuses on Computational biology and how it relates to Whole genome sequencing.
He interconnects Evolutionary biology, Structural variation, Breakpoint, Y chromosome and Genetic variation in the investigation of issues within Human genome. His Exome sequencing research is multidisciplinary, relying on both Prenatal diagnosis, Prospective cohort study, Bioinformatics and Developmental disorder. He has researched Copy-number variation in several fields, including Gene duplication, International HapMap Project, Comparative genomic hybridization and DNA sequencing.
His primary areas of investigation include Gene, Genetics, Exome sequencing, Exome and Proband. His Gene research integrates issues from Coding and Computational biology. His works in Missense mutation, Genetic variation, Mutation rate, Penetrance and Germline mutation are all subjects of inquiry into Genetics.
His Genetic variation study combines topics in areas such as Phenotype, Genome-wide association study and Genetic predisposition. He has included themes like Bioinformatics, Germline, Genomics, Allele and Locus in his Exome study. His Human genome research incorporates elements of Structural variation, Genetic diversity and Introgression.
Matthew E. Hurles mainly investigates Exome, Exome sequencing, Genetics, Gene and Genetic variation. His studies in Exome integrate themes in fields like Genetic heterogeneity, Computational biology and Genetic testing. His work deals with themes such as Proband, Copy-number variation, Allele frequency, Obstetrics and Prospective cohort study, which intersect with Exome sequencing.
Genetics is represented through his Penetrance, Mutation rate and Germline research. His Genetic variation study frequently draws connections to adjacent fields such as Genome-wide association study. His Genome-wide association study research includes elements of Primary immunodeficiency, Genetic predisposition, Genomics, Phylogenetics and Coding.
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A global reference for human genetic variation.
Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin.
(2015)
A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R Abecasis;David Altshuler;David Altshuler;Adam Auton.
Nature (2010)
Global variation in copy number in the human genome
Richard Redon;Shumpei Ishikawa;Karen R. Fitch;Lars Feuk.
Nature (2006)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley;Shankar Balasubramanian;Harold P. Swerdlow;Harold P. Swerdlow;Geoffrey P. Smith.
Nature (2008)
Integrating common and rare genetic variation in diverse human populations
D M Altshuler;R A Gibbs;L Peltonen.
Nature (2010)
Cerebral organoids model human brain development and microcephaly
Madeline A. Lancaster;Magdalena Renner;Carol Anne Martin;Daniel Wenzel.
Nature (2013)
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk.
Nature (2010)
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Barbara E. Stranger;Matthew S. Forrest;Mark Dunning;Catherine E. Ingle.
Science (2007)
A global reference for human genetic variation
Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin.
PMC (2015)
Paired-end mapping reveals extensive structural variation in the human genome.
Jan O. Korbel;Alexander Eckehart Urban;Jason P. Affourtit;Brian Godwin.
Science (2007)
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