IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Autor: Jill Jacobson, Keith A Coffman, Susan S Hughes, Caitlin Lawson, Erin D Fecske, Ahmed T Abdelmoity, Thuy Tien T Dang, Annapoorna Nair, Janda L Jenkins, Kendra L Engleman, Daniel A Louiselle, Orion Buske, Nigel Price, Dihong Zhou, Michael Lypka, Courtney D Berrios, Laura Mb Puckett, Kelsee Halpin, Ana Sa Cohen, Nikita Raje, Aaron M Wenger, Emily G Farrow, Keely Fitzgerald, Mohammed Ilyas, Kailash Pawar, Joseph T Alaimo, Jennifer L Gannon, Laurel K Willig, Jean-Baptiste Le Pichon, Shivarajan M Amudhavalli, Christopher M Oermann, Rebecca L Biswell, Shelby H Neal, Lalit Bansal, Elizabeth Shaffer, Brittany D McDonald, Bonnie R Sullivan, Isabelle Thiffault, Christine Lambert, Ashley M Cooper, Suzanne M Herd, Holly Welsh, Julio F Quezada, Carol J Saunders, Caitlin Schwager, Brian S Harvey, Adam M Walter, Donna M Pacicca, Jennifer Kussmann, Rose N Gelineau-Morel, Margaret Gibson, Elin Grundberg, Shao Jiang, Scott T Younger, Steve Leeder, Richard M Schwend, John T Anderson, Venkatesh Sampath, Jonas Korlach, Bryce A Heese, Meghan E Strenk, Neil Miller, Vicki C Little, Ann Modrcin, Brooke R Sweeney, Randi N Gadea, Nyshele L Posey, Emily A Fleming, Wendy Hein, Cynthia Fieser, Eric T Rush, Laura A Cross, Craig Smail, William J Rowell, Kathryn Keeler, Jeffrey Goldstein, Tricia N Zion, Warren A. Cheung, Sarah Soden, Lauren Bartik, Bradley Belden, Thomas Curran, Pawel Buczkowicz, Shreyasee Chakraborty, Yun Yan, Tomi Pastinen, Primo Baybayan, Mary M Elfrink, Jeffrey J Johnston, Jade B Tam-Williams

PURPOSETo provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program.METHODSExtensive analyses of 960 families with suspected genetic disorders including short-read e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b55ee732f1ec32f314eebddcd46b6b25
https://doi.org/10.1101/2021.10.07.21264628

Prevention of chronic diseases: a call to action

Autor: Steve Leeder, Shah Ebrahim, Srinath Reddy, Janet Voûte, Robert Beaglehole

Publikováno v: The Lancet. 370:2152-2157

Chronic (non-communicable) diseases--principally cardiovascular diseases, cancer, chronic respiratory diseases, and diabetes--are leading causes of death and disability but are surprisingly neglected elements of the global-health agenda. They are und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6178a5dde92438c05b4948985cddfa75
https://doi.org/10.1016/s0140-6736(07)61700-0

Large-scale computation of pediatric growth percentiles with fuzzy logic justification of parameter selection

Autor: J. Steve Leeder, Chengpeng Bi

Publikováno v: CIBCB

The electronic health record is now becoming a hot topic in the medical community largely owing to the rapid advances in both information technology and emerging personalized medicine. In pediatric research and clinical care, an important issue is to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c11834f5a754862be8ab388761a9041
https://doi.org/10.1109/cibcb.2012.6217209

Supervised learning of maternal cigarette-smoking signatures from placental gene expression data: A case study

Autor: Carrie A. Vyhlidal, Steve Leeder, Chengpeng Bi

Publikováno v: CIBCB

This paper aims to conduct supervised learning of the cigarette-smoking signatures from the placental gene expression data sets under the neural network framework and build classifiers to identify the cigarette-smoking moms during pregnancy. First, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63ba4d444ca91c60d0ef30b94fc0a027
https://doi.org/10.1109/cibcb.2010.5510587

The Oxford Health Alliance gives young people a voice on chronic disease

Autor: Fred, Hersch, Steve, Leeder, Hester, Rice

Publikováno v: Health promotion journal of Australia : official journal of Australian Association of Health Promotion Professionals. 20(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dfc8efb9f08dd2714da94085118f444c
https://pubmed.ncbi.nlm.nih.gov/19642953