What is he best known for?
The fields of study he is best known for:
The scientist’s investigation covers issues in Genetics, Beckwith–Wiedemann syndrome, DNA methylation, Gene and Genomic imprinting.
His Genetics study frequently involves adjacent topics like Rare disease.
As a part of the same scientific family, he mostly works in the field of Beckwith–Wiedemann syndrome, focusing on Uniparental disomy and, on occasion, Genetic heterogeneity, Germline, Germline mutation, Aneuploidy and Hemihypertrophy.
The concepts of his DNA methylation study are interwoven with issues in Molecular biology, Epigenetics, Imprinting and Methylation.
His Genomic imprinting study which covers Allele that intersects with Human embryogenesis.
Paul N. Schofield combines subjects such as Model organism, Bioinformatics, Semantic similarity, Computational biology and Mendelian inheritance with his study of Phenotype.
His most cited work include:
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (630 citations)
- A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome (373 citations)
- IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome (255 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Ontology, Computational biology, Phenotype and Gene.
His study in Genome, Beckwith–Wiedemann syndrome, Genomic imprinting, Locus and Candidate gene falls within the category of Genetics.
His Genomic imprinting research integrates issues from Molecular biology and Imprinting.
His work carried out in the field of Ontology brings together such families of science as World Wide Web, Interoperability and Automated reasoning.
His studies deal with areas such as Annotation and Human genetics as well as Computational biology.
His work focuses on many connections between Phenotype and other disciplines, such as Disease, that overlap with his field of interest in Bioinformatics.
He most often published in these fields:
- Genetics (23.08%)
- Ontology (21.15%)
- Computational biology (20.67%)
What were the highlights of his more recent work (between 2016-2021)?
- Phenotype (19.71%)
- Computational biology (20.67%)
- Ontology (21.15%)
In recent papers he was focusing on the following fields of study:
Paul N. Schofield mostly deals with Phenotype, Computational biology, Ontology, Exome and Gene.
His Phenotype research is multidisciplinary, relying on both Genetic adaptation, Model organism and Semantic Web.
The Computational biology study combines topics in areas such as Infectious disease, Cancer, Human pathogen, Disease mechanisms and Infectious agent.
The various areas that Paul N. Schofield examines in his Ontology study include Trait, Automated reasoning and Natural language processing.
Paul N. Schofield has included themes like Genome, Whole genome sequencing and Disease in his Exome study.
His Gene research incorporates elements of Annotation and Identification.
Between 2016 and 2021, his most popular works were:
- The anatomy of phenotype ontologies: principles, properties and applications. (45 citations)
- Integrating phenotype ontologies with PhenomeNET (30 citations)
- Semantic prioritization of novel causative genomic variants (25 citations)
In his most recent research, the most cited papers focused on:
Phenotype, Low dose, Genetics, Exome and Whole genome sequencing are his primary areas of study.
His study in Phenotype is interdisciplinary in nature, drawing from both Ontology, Computational biology, Data science and Semantic Web.
His research integrates issues of Disease gene, Model organism, Automated reasoning, Matching and Nematode worm in his study of Ontology.
His Genetics research incorporates themes from Low Dose Radiation and Genetic adaptation.
His Exome study combines topics in areas such as Cancer and Genetic heterogeneity.
His Whole genome sequencing research is multidisciplinary, incorporating elements of Pathogenesis, Allele frequency, DNA microarray, Colorectal cancer and Genetic variation.
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