GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Autor: Mossotto, E.^1,2 Enrico.Mossotto@soton.ac.uk, Ashton, J. J.^1,3, O'Gorman, L.¹, Pengelly, R. J.^1,2, Beattie, R. M.³, MacArthur, B. D.², Ennis, S.¹

Publikováno v: BMC Bioinformatics. 5/16/2019, Vol. 20 Issue 1, p1-15. 15p. 4 Charts, 3 Graphs.

Immunological Profiling of Paediatric Inflammatory Bowel Disease Using Unsupervised Machine Learning.

Autor: Coelho T; Human Genetics and Genomic medicine, University of Southampton.; Department of Paediatric Gastroenterology., Mossotto E; Human Genetics and Genomic medicine, University of Southampton., Gao Y; Cancer Sciences Division, Faculty of Medicine., Haggarty R; NIHR, Southampton Biomedical Research Centre, University Hospital Southampton., Ashton JJ; Human Genetics and Genomic medicine, University of Southampton.; Department of Paediatric Gastroenterology., Batra A; Department of Paediatric Gastroenterology., Stafford IS; Human Genetics and Genomic medicine, University of Southampton.; Institute for Life Sciences, University of Southampton, Southampton, UK., Beattie RM; Department of Paediatric Gastroenterology., Williams AP; Cancer Sciences Division, Faculty of Medicine., Ennis S; Human Genetics and Genomic medicine, University of Southampton.

Publikováno v: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2020 Jun; Vol. 70 (6), pp. 833-840.

Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.

Autor: Cuddleston WH; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Fan X; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Sloofman L; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Liang L; Department of Psychiatry and Behavioral Sciences and UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Mossotto E; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Moore K; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Zipkowitz S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Wang M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mount Sinai Center for Transformative Disease Modeling, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA; Icahn Institute for Genomics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA., Zhang B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mount Sinai Center for Transformative Disease Modeling, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA; Icahn Institute for Genomics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA., Wang J; Department of Biostatistics, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Program in Cellular Neuroscience, Neurodegeneration, and Repair and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Comparative Medicine, Program in Integrative Cell Signaling and Neurobiology of Metabolism, Yale School of Medicine, New Haven, CT 06510, USA., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, 3811 O'Hara Street, Pittsburgh, PA 15213, USA., Roeder K; Carnegie Mellon University, Statistics & Data Science Department, Pittsburgh, PA 15213, USA., Sanders SJ; Department of Psychiatry and Behavioral Sciences and UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Breen MS; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: michael.breen@mssm.edu.

Publikováno v: Cell reports [Cell Rep] 2022 Nov 01; Vol. 41 (5), pp. 111585.

A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases.

Autor: Stafford, I. S., Kellermann, M., Mossotto, E., Beattie, R. M., MacArthur, B. D., Ennis, S.

Publikováno v: NPJ Digital Medicine; 3/9/2020, Vol. 3 Issue 1, p1-11, 11p

Endoscopic and histological assessment of paediatric inflammatory bowel disease over a three year follow-up period

Autor: Ashton, J.J., Bonduelle, Q., Mossotto, E., Coelho, T., Batra, A., Vadgama, B., Ennis, S., Beattie, R.M.

Objectives:Discrepancies between inflammatory bowel disease (IBD) endoscopic/histological extent are documented at diagnosis. It is unclear whether these differences persist through disease course, with potential impact on categorization and manageme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______348::b9f15d484b8b2d52a857b4e9d719d9b4
https://eprints.soton.ac.uk/414125/