What is he best known for?
The fields of study he is best known for:
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 most cited work include:
- A global reference for human genetic variation. (7825 citations)
- A Map of Human Genome Variation From Population-Scale Sequencing (6302 citations)
- Global variation in copy number in the human genome (3626 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (62.00%)
- Gene (18.33%)
- Human genome (18.00%)
What were the highlights of his more recent work (between 2017-2021)?
- Gene (18.33%)
- Genetics (62.00%)
- Exome sequencing (16.00%)
In recent papers he was focusing on the following fields of study:
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.
Between 2017 and 2021, his most popular works were:
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study (148 citations)
- Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders (132 citations)
- De novo mutations in regulatory elements in neurodevelopmental disorders. (127 citations)
In his most recent research, the most cited papers focused on:
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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