Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.

Autor: Musolf AM; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Baltimore, MD, 21224, USA., Justice CM; Neurobehavioral Clinical Research Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA., Erdogan-Yildirim Z; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA., Goovaerts S; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT-PSI, KU Leuven, Leuven, Belgium.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium., Cuellar A; Department of Pediatrics, University of California Davis, Sacramento, CA, 95817, USA., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA., Claes P; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT-PSI, KU Leuven, Leuven, Belgium.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA., Li J; Bioinformatics Core, Genome Center, University of California Davis, Davis, CA, 95618, USA., Senders C; Department of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, 95817, USA., Zwienenberg M; Department of Neurosurgery, University of California Davis, Sacramento, CA, 95817, USA., Simeonov E; Pediatric Clinic, Alexandrovska University Hospital, Medical University of Sofia, 1431, Sofia, Bulgaria., Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431, Sofia, Bulgaria., Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, Australia., Di Pietro L; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy., Barba M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy., Lattanzi W; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy., Cunningham ML; Seattle Children's Craniofacial Center, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA., Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu., Boyadjiev SA; Department of Pediatrics, University of California Davis, Sacramento, CA, 95817, USA.

Publikováno v: Scientific reports [Sci Rep] 2024 Apr 12; Vol. 14 (1), pp. 8533. Date of Electronic Publication: 2024 Apr 12.

Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.

Autor: Vazzana KM; Lupus Genomics and Global Health Disparities Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Arnold Palmer Hospital for Children, Orlando, FL, USA., Musolf AM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 22124, USA., Bailey-Wilson JE; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 22124, USA., Hiraki LT; Division of Rheumatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Silverman ED; Division of Rheumatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Scott C; Paediatric Rheumatology, Red Cross War Memorial Children's Hospital and University of Cape Town, Cape Town, South Africa., Dalgard CL; The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, USA., Hasni S; Clinical Program, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Deng Z; Biodata Mining and Discovery Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Kaplan MJ; Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Lewandowski LB; Lupus Genomics and Global Health Disparities Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. laura.lewandowski@nih.gov.

Publikováno v: Genes and immunity [Genes Immun] 2023 Aug; Vol. 24 (4), pp. 200-206. Date of Electronic Publication: 2023 Jul 24.

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Autor: Musolf AM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA., Haarman AEG; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., Luben RN; MRC Epidemiology, University of Cambridge School of Clinical Medicine, Cambridge, UK.; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK., Ong JS; Statistical Genetics Laboratory, Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Patasova K; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Trapero RH; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK., Marsh J; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK., Jain I; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA., Jain R; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA., Wang PZ; Institute for Biomedical Sciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Lewis DD; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA., Tedja MS; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., Iglesias AI; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., Li H; Data Science Unit, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Cowan CS; Institute for Molecular and Clinical Ophthalmology Basel, Basel, Switzerland., Biino G; Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy., Klein AP; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA., Duggal P; The Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Mackey DA; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, WA, Australia., Hayward C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK., Haller T; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia., Metspalu A; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia., Wedenoja J; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland., Pärssinen O; Department of Ophthalmology, Central Hospital of Central Finland, Jyväskylä, Finland.; Gerontology Research Center, Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland., Cheng CY; Centre for Quantitative Medicine, DUKE-National University of Singapore, Singapore, Singapore.; Ocular Epidemiology Research Group, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Saw SM; Saw Swee Hock School of Public Health, National University Health Systems, National University of Singapore, Singapore, Singapore.; Myopia Research Group, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Stambolian D; Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA., Hysi PG; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Khawaja AP; MRC Epidemiology, University of Cambridge School of Clinical Medicine, Cambridge, UK.; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK., Vitart V; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK., Hammond CJ; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., van Duijn CM; Nuffield Department of Population Health, University of Oxford, Oxford, UK., Verhoeven VJM; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. v.verhoeven@erasmusmc.nl.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands. v.verhoeven@erasmusmc.nl.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. v.verhoeven@erasmusmc.nl., Klaver CCW; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. c.c.w.klaver@erasmusmc.nl.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands. c.c.w.klaver@erasmusmc.nl.; Institute for Molecular and Clinical Ophthalmology Basel, Basel, Switzerland. c.c.w.klaver@erasmusmc.nl.; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands. c.c.w.klaver@erasmusmc.nl., Bailey-Wilson JE; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA. jebw@mail.nih.gov.

Publikováno v: Communications biology [Commun Biol] 2023 Jan 03; Vol. 6 (1), pp. 6. Date of Electronic Publication: 2023 Jan 03.

What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics.

Autor: Musolf AM; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA., Holzinger ER; Target Sciences, Informatics and Predictive Sciences, Bristol Myers Squibb, Cambridge, MA, USA., Malley JD; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA., Bailey-Wilson JE; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA. jebw@mail.nih.gov.

Publikováno v: Human genetics [Hum Genet] 2022 Sep; Vol. 141 (9), pp. 1515-1528. Date of Electronic Publication: 2021 Dec 04.

Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.

Autor: Wijesiriwardhana P; Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Ruhuna, Galle, Sri Lanka.; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Musolf AM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 21224, USA., Bailey-Wilson JE; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 21224, USA., Wetthasinghe TK; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. vajira@anat.cmb.ac.lk.

Publikováno v: BMC research notes [BMC Res Notes] 2022 Jun 02; Vol. 15 (1), pp. 190. Date of Electronic Publication: 2022 Jun 02.