المؤلفون: Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang

المصدر: Genomics, Proteomics & Bioinformatics, Vol 20, Iss 6, Pp 1197-1206 (2022)

مصطلحات موضوعية: Copy number variant, Chromosomal microarray assay, Whole-genome sequencing, JAX-CNV, Genetic testing, Biology (General), QH301-705.5, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1672022922000055; https://doaj.org/toc/1672-0229

URL الوصول: https://doaj.org/article/d5ab0fcc7ed148528d94393b13f9bce1

المؤلفون: Timothy Becker, Wan-Ping Lee, Joseph Leone, Qihui Zhu, Chengsheng Zhang, Silvia Liu, Jack Sargent, Kritika Shanker, Adam Mil-homens, Eliza Cerveira, Mallory Ryan, Jane Cha, Fabio C. P. Navarro, Timur Galeev, Mark Gerstein, Ryan E. Mills, Dong-Guk Shin, Charles Lee, Ankit Malhotra

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Structural variation, Copy number variation, Next generation sequencing, Genome rearrangements, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-018-1404-6; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/ed8fbd6184544edc8cdbff2d7a92587c

المؤلفون: Eliza Cerveira, Kai Ye, Silvia Liu, Adam Mil-homens, Mallory Ryan, Wan-Ping Lee, Charles Lee, Lauren Bellfy, Chengsheng Zhang, Qihui Zhu, Xiaofei Yang

مصطلحات موضوعية: False discovery rate, Whole genome sequencing, medicine.diagnostic_test, Clinical diagnosis, Current threshold, medicine, Clinical grade, Copy-number variation, Experimental validation, Biology, Algorithm, eye diseases, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7631c910e2dd941b52fc79a8583bd9b1
https://doi.org/10.1101/2021.03.16.21252173

المؤلفون: Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang

المصدر: Genomics, proteomicsbioinformatics.

مصطلحات موضوعية: Computational Mathematics, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db5d8cc7e42a2540b49f3d21204e70ec
https://pubmed.ncbi.nlm.nih.gov/35085778

المؤلفون: Eliza Cerveira, Charles Lee, Adam Mil-homens, Chengsheng Zhang, Honey V. Reddi, Qihui Zhu, Diana W. Bianchi, Mallory Ryan, Louise Wilkins-Haug

المصدر: Prenatal Diagnosis. 38:445-458

مصطلحات موضوعية: Down syndrome, medicine.medical_specialty, Biospecimen, Colorectal cancer, Karyotype, Polymerase Chain Reaction, Article, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Humans, Medicine, Digital polymerase chain reaction, 030212 general & internal medicine, Confined placental mosaicism, Genetics (clinical), Vanishing twin, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Maternal Serum Screening Tests, Obstetrics and Gynecology, medicine.disease, Female, Down Syndrome, business, Cell-Free Nucleic Acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f56333ff23b3c408fe96b398f4c2a78
https://doi.org/10.1002/pd.5260

المؤلفون: Lauren Bellfy, Mallory Ryan, Mauro Longoni, Charles Lee, M. P. Joy, Patricia K. Donahoe, Chengsheng Zhang, Pooja Bhayani, Meaghan K. Russell, Eliza Cerveira, Caroline Coletti, Adam Mil-homens, Regis Hila, Qihui Zhu, Jay M. Wilson, Frances A. High

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, DNA Copy Number Variations, endocrine system diseases, CNV, Biology, Polymorphism, Single Nucleotide, congenital diaphragmatic hernia, 03 medical and health sciences, customized array, mental disorders, Genetics, medicine, Humans, copy number variant, Copy-number variation, Gene, Comparative Genomic Hybridization, Multidisciplinary, Case-control study, Congenital diaphragmatic hernia, Biological Sciences, Prognosis, HNF1B, medicine.disease, Hypoplasia, birth defects, 030104 developmental biology, Case-Control Studies, Hernias, Diaphragmatic, Congenital, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4dfc1dfadbde1c5d89e0a28a93232e
https://doi.org/10.1073/pnas.1714885115

المؤلفون: Meihong Li, Liang Gong, Yanfen Zhu, Chris Kuhlberg, Jihe Liu, Adam Mil-Homens, Ana C. deCarvalho, Chia-Lin Wei, Roel G.W. Verhaak, Yi-An Chen, Chew Yee Ngan, Yijun Ruan, Chee Hong Wong, Rahul Maurya, Eun Hee Yi, Harianto Tjong, Fanyue Sun, Amit D. Gujar, Hoon Kim

المساهمون: Neurosurgery

المصدر: Cancer Cell, 39(5), 694-707.e7. Cell Press
Zhu, Y, Gujar, A D, Wong, C-H, Tjong, H, Ngan, C Y, Gong, L, Chen, Y-A, Kim, H, Liu, J, Li, M, Mil-Homens, A, Maurya, R, Kuhlberg, C, Sun, F, Yi, E, deCarvalho, A C, Ruan, Y, Verhaak, R G W & Wei, C-L 2021, ' Oncogenic extrachromosomal DNA functions as mobile enhancers to globally amplify chromosomal transcription ', Cancer Cell, vol. 39, no. 5, pp. 694-707.e7 . https://doi.org/10.1016/j.ccell.2021.03.006

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Carcinogenesis, Biology, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Extrachromosomal DNA, medicine, Humans, Enhancer, Gene, ChIA-PET, Cancer, DNA, Neoplasm, Oncogenes, medicine.disease, Chromatin, Cell biology, 030104 developmental biology, Oncology, Tumor progression, 030220 oncology & carcinogenesis, Glioblastoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5116bbf1cb60b3cb4ed253e327b6a932
https://doi.org/10.1016/j.ccell.2021.03.006