Jeremy Schwartzentruber mostly deals with Genetics, Mutation, Exome, Cancer research and Exome sequencing. His work on Family medicine expands to the thematically related Genetics. Many of his research projects under Mutation are closely connected to Fanconi anemia, complementation group C with Fanconi anemia, complementation group C, tying the diverse disciplines of science together.
His work carried out in the field of Exome brings together such families of science as Bioinformatics, Genome, Whole genome sequencing, Genomics and DNA sequencing. His studies deal with areas such as Fusion gene, DNA methylation, Breast cancer and IDH1 as well as Cancer research. Jeremy Schwartzentruber combines subjects such as Sanger sequencing, Genetic heterogeneity and NAD+ kinase with his study of Exome sequencing.
Jeremy Schwartzentruber mainly investigates Genetics, Exome sequencing, Mutation, Gene and Exome. His Exome sequencing research incorporates themes from Missense mutation, Bioinformatics, Compound heterozygosity, Sanger sequencing and Genetic heterogeneity. The study incorporates disciplines such as Molecular biology, Cancer research, Epigenetics and Histone in addition to Mutation.
In his research, Glioma is intimately related to IDH1, which falls under the overarching field of Cancer research. He works mostly in the field of Gene, limiting it down to topics relating to Cell biology and, in certain cases, Cell migration and Immune system. His Exome study deals with Joubert syndrome intersecting with Ciliogenesis and Ciliopathy.
Gene, Genetics, Genome-wide association study, Computational biology and Genetic association are his primary areas of study. His Gene study frequently links to related topics such as Molecular biology. His Genetics study is mostly concerned with Microcephaly, Locus, Exome sequencing, Loss function and Missense mutation.
Jeremy Schwartzentruber has included themes like Mutation, Frameshift mutation, Neurodegeneration, Leukodystrophy and Nonsense mutation in his Microcephaly study. His Genetic association study combines topics from a wide range of disciplines, such as Imputation, Allele, Disease and Whole genome sequencing. His research investigates the connection between Chromatin and topics such as Cell culture that intersect with issues in Cell biology.
Jeremy Schwartzentruber focuses on Quantitative trait locus, Whole genome sequencing, Cell biology, Genetic association and Genetics. His Whole genome sequencing research is multidisciplinary, incorporating perspectives in Imputation and Computational biology. His studies examine the connections between Cell biology and genetics, as well as such issues in Cell culture, with regards to Gene.
His biological study deals with issues like Allele, which deal with fields such as Genome-wide association study, Odds ratio, Population genetics, Disease and Locus. His Genetics research is multidisciplinary, incorporating elements of Molecular biology, Tyrosine and Enzyme. Jeremy Schwartzentruber works mostly in the field of Bioinformatics, limiting it down to concerns involving Pediatrics and, occasionally, Exome sequencing.
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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Jeremy Schwartzentruber;Andrey Korshunov;Xiao Yang Liu;David T.W. Jones.
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.
Dominik Sturm;Hendrik Witt;Hendrik Witt;Volker Hovestadt;Dong Anh Khuong-Quang.
Cancer Cell (2012)
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.
Dong Anh Khuong-Quang;Pawel Buczkowicz;Patricia Rakopoulos;Xiao Yang Liu.
Acta Neuropathologica (2012)
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
David T W Jones;Barbara Hutter;Natalie Jäger;Andrey Korshunov;Andrey Korshunov.
Nature Genetics (2013)
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui.
Nature Genetics (2012)
What can exome sequencing do for you
Jacek Majewski;Jeremy Schwartzentruber;Emilie Lalonde;Alexandre Montpetit.
Journal of Medical Genetics (2011)
Clonal selection drives genetic divergence of metastatic medulloblastoma
Xiaochong Wu;Paul A. Northcott;Adrian Dubuc;Adam J. Dupuy.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman.
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.
Xiao-Yang Liu;Noha Gerges;Andrey Korshunov;Nesrin Sabha.
Acta Neuropathologica (2012)
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Adam M. Fontebasso;Simon Papillon-Cavanagh;Jeremy Schwartzentruber;Hamid Nikbakht.
Nature Genetics (2014)
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