What is he best known for?
The fields of study he is best known for:
Leslie G. Biesecker spends much of his time researching Genetics, Exome sequencing, Exome, Genomics and Mutation.
His Exome sequencing study combines topics from a wide range of disciplines, such as Personal genomics, CLOVES syndrome and Mutation.
Leslie G. Biesecker focuses mostly in the field of Exome, narrowing it down to matters related to Genetic testing and, in some cases, 17q21.31 microdeletion syndrome, Down syndrome, Comparative genomic hybridization, Chromosomal rearrangement and Autism.
His Genomics research is multidisciplinary, incorporating perspectives in Human genome, MEDLINE, Bioinformatics and Medical education.
His work deals with themes such as Penetrance, Evidence-based practice, Disease and DNA sequencing, which intersect with Bioinformatics.
His Mutation research integrates issues from Phenotype, Molecular biology, Cancer research and X chromosome.
His most cited work include:
- Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies (1777 citations)
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (1720 citations)
- Guidelines for investigating causality of sequence variants in human disease (901 citations)
What are the main themes of his work throughout his whole career to date?
His main research concerns Genetics, Exome sequencing, Exome, Proteus syndrome and Internal medicine.
His biological study spans a wide range of topics, including MEDLINE, Genome, Massive parallel sequencing, Genomics and Computational biology.
His Genomics research is multidisciplinary, incorporating perspectives in Genetic testing and Bioinformatics.
The various areas that he examines in his Bioinformatics study include Disease and DNA sequencing.
His research in Computational biology intersects with topics in Human genome and Medical genetics.
His Proteus syndrome research is multidisciplinary, incorporating elements of AKT1 and Connective tissue nevus.
He most often published in these fields:
- Genetics (30.32%)
- Exome sequencing (14.43%)
- Exome (12.22%)
What were the highlights of his more recent work (between 2018-2021)?
- Computational biology (10.27%)
- Proteus syndrome (11.98%)
- Exome sequencing (14.43%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Computational biology, Proteus syndrome, Exome sequencing, Genomics and Genetics.
His Computational biology research incorporates themes from Genome, Personalized medicine, Mendelian disorders and Disease.
His Proteus syndrome research incorporates elements of AKT1 and Connective tissue nevus.
The Genomics study combines topics in areas such as Translational research, Cognition, Human genetics and Medical genetics.
His work in the fields of Genetics, such as Phenotype and Gene, intersects with other areas such as Inheritance.
As part of one scientific family, Leslie G. Biesecker deals mainly with the area of Bioinformatics, narrowing it down to issues related to the Exome, and often Return of results.
Between 2018 and 2021, his most popular works were:
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. (68 citations)
- Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. (47 citations)
- A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers (37 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Leslie G. Biesecker mainly focuses on Computational biology, Proteus syndrome, Exome sequencing, Exome and Human genetics.
His Computational biology research includes elements of Mendelian disorders and Mechanism.
His study in Proteus syndrome is interdisciplinary in nature, drawing from both AKT1, Thrombosis, Connective tissue nevus and Overgrowth syndrome.
His studies deal with areas such as CLARITY, Data science and Rare disease as well as Exome sequencing.
His Exome study combines topics from a wide range of disciplines, such as Autism, PDGFRB, Sequence analysis, Etiology and Epilepsy.
The concepts of his Human genetics study are interwoven with issues in Genomic screening, Context and Genomics.
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