المؤلفون: Dai, Yulin, Itai, Toshiyuki, Pei, Guangsheng, Yan, Fangfang, Chu, Yan, Jiang, Xiaoqian, Weinberg, Seth M, Mukhopadhyay, Nandita, Marazita, Mary L, Simon, Lukas M, Jia, Peilin, Zhao, Zhongming

المصدر: HGG Adv ; ISSN:2666-2477 ; Volume:5 ; Issue:3

مصطلحات موضوعية: SNP activity difference prediction, convolutional neural network, epigenomic assay, genome-wide association studies, human embryonic craniofacial development, noncoding variant, orofacial clefts, variant function

العلاقة: https://doi.org/10.1016/j.xhgg.2024.100312Test; https://pubmed.ncbi.nlm.nih.gov/38796699Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193024Test/

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100312Test
https://pubmed.ncbi.nlm.nih.gov/38796699Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193024Test/

المؤلفون: Kim, Yujin, Jeong, Minwoo, Koh, In Gyeong, Kim, Chanhee, Lee, Hyeji, Kim, Jae Hyun, Yurko, Ronald, Kim, Il Bin, Park, Jeongbin, Werling, Donna M, Sanders, Stephan J, An, Joon-Yong

المصدر: medRxiv

مصطلحات موضوعية: genetic association, noncoding genome, rare variant, regulatory noncoding variant, whole-genome sequencing

العلاقة: https://doi.org/10.1101/2024.04.15.24305828Test; https://pubmed.ncbi.nlm.nih.gov/38699372Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065022Test/

الإتاحة: https://doi.org/10.1101/2024.04.15.24305828Test
https://pubmed.ncbi.nlm.nih.gov/38699372Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065022Test/

المؤلفون: Corneliu A. Bodea, Adele A. Mitchell, Alex Bloemendal, Aaron G. Day-Williams, Heiko Runz, Shamil R. Sunyaev

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

مصطلحات موضوعية: Noncoding variant, Computational functionality prediction, Epigenetic regulation, Cell type specificity, Functional scoring, Variant prioritization, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13059-018-1546-6Test; https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/01dfcfcedd2d4a578c8bac8e1ec8674cTest

المؤلفون: Lin Zhou, Fangqing Zhao

المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-18 (2018)

مصطلحات موضوعية: Complex disease, Functional annotation, Genetic variant, Variant prioritization, Noncoding variant, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-018-0565-yTest; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/888ef501469e48e89b0ba8eef3bb8774Test

المؤلفون: Yi Zhang, Mohith Manjunath, Jialu Yan, Brittany A. Baur, Shilu Zhang, Sushmita Roy, Jun S. Song

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: noncoding variant, GWAS, breast cancer, functional characterization, immune cells, tumor microenvironment, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00754/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/c8506cf189e149b994364e64dc2a5334Test

المؤلفون: Bournazos, Adam M., Riley, Lisa G., Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Bommireddipalli, Shobhana, Donaldson, L, Downie, L, Edwards, C, Edwards, M, Engel, A, Ewans, LJ, Faiz, F, Fennell, A, Field, M, Freckmann, ML, Ades, Lesley, Gallacher, L, Gear, R, Goel, Himanshu, Goh, S, Goodwin, L, Hanna, B, Harraway, J, Higgins, M, Ho, G, Hopper, BK, Akesson, Lauren S., Horton, AE, Hunter, MF, Huq, AJ, Josephi-Taylor, S, Joshi, H, Kirk, E, Krzesinski, E, Kumar, KR, Lemckert, F, Leventer, RJ, Al-Shinnag, Mohammad, Lindsey-Temple, SE, Lunke, S, Ma, A, Macaskill, S, Mallawaarachchi, A, Marty, M, Marum, JE, McCarthy, HJ, Menezes, MP, McLean, A, Alexander, Stephen I., Milnes, D, Mohammad, S, Mowat, D, Niaz, A, Palmer, EE, Patel, C, Patel, SG, Phelan, D, Pinner, JR, Rajagopalan, S, Archibald, Alison D., Regan, M, Rodgers, J, Rodrigues, M, Roxburgh, RH, Sachdev, R, Roscioli, T, Samarasekera, R, Sandaradura, SA, Savva, E, Schindler, T, Balasubramaniam, Shanti, Shah, M, Sinnerbrink, IB, Smith, JM, Smith, RJ, Springer, A, Stark, Z, Strom, SP, Sue, CM, Tan, K, Tan, TY, Berman, Yemima, Tantsis, E, Tchan, MC, Thompson, BA, Trainer, AH, van Spaendonck-Zwarts, K, Walsh, R, Warwick, L, White, S, White, SM, Williams, MG

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: genetic diagnosis, noncoding variant, pre-mRNA splicing, putative splice variant, variant classification

العلاقة: Genetics in Medicine Vol. 24, Issue 1, p. 130-145; http://hdl.handle.net/1959.13/1465743Test; uon:47363

الإتاحة: http://hdl.handle.net/1959.13/1465743Test

المؤلفون: Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski

المساهمون: Bournazos, Adam M, Riley, Lisa G, Bommireddipalli, Shobhana, Ades, Lesley, Cooper, Sandra T, Toubia, John, Australasian Consortium for RNA Diagnostics

مصطلحات موضوعية: Adult, Adolescent, RNA Splicing, Genetic counseling, putative splice variant, Biology, law.invention, genetic diagnosis, law, Exome Sequencing, Biopsy, medicine, Humans, variant classification, Gene, Genetics (clinical), Polymerase chain reaction, Genetics, medicine.diagnostic_test, Sequence Analysis, RNA, noncoding variant, RNA, Heterozygote advantage, Amplicon, Child, Preschool, Mutation, RNA splicing, pre-mRNA splicing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140Test
https://hdl.handle.net/11541.2/34507Test

المؤلفون: Chin, Iris M, Gardell, Zachary A, Corces, M Ryan

المصدر: Trends Cell Biol ; ISSN:1879-3088 ; Volume:34 ; Issue:6

مصطلحات موضوعية: GWAS, fine-mapping, functional genomics, noncoding variant, variant effect prediction, variant prioritization

العلاقة: https://doi.org/10.1016/j.tcb.2024.03.005Test; https://pubmed.ncbi.nlm.nih.gov/38719704Test

الإتاحة: https://doi.org/10.1016/j.tcb.2024.03.005Test
https://pubmed.ncbi.nlm.nih.gov/38719704Test

المؤلفون: Morgan A., Dipresa S., Turolla L., La Bianca M., Faletra F., Girotto G.

المساهمون: Morgan, A., Dipresa, S., Turolla, L., La Bianca, M., Faletra, F., Girotto, G.

مصطلحات موضوعية: TAR syndrome, noncoding variant, etiopathogenesis of disease

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33559987; info:eu-repo/semantics/altIdentifier/wos/WOS:000596413700001; volume:42; issue:2; firstpage:213; lastpage:215; numberofpages:3; journal:HUMAN MUTATION; http://hdl.handle.net/11368/2980338Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097263459

الإتاحة: https://doi.org/10.1002/humu.24145Test
http://hdl.handle.net/11368/2980338Test

المؤلفون: maili, lorena

المصدر: Dissertations and Theses (Open Access)

مصطلحات موضوعية: cleft lip, nonsyndromic, noncoding variant, SNV, association study, craniofacial development, zebrafish model, morphometrics, Developmental Biology, Genetics, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1100Test; https://digitalcommons.library.tmc.edu/context/utgsbs_dissertations/article/2157/viewcontent/Maili_Dissertation_Final_nosignatures.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1100Test
https://digitalcommons.library.tmc.edu/context/utgsbs_dissertations/article/2157/viewcontent/Maili_Dissertation_Final_nosignatures.pdfTest