المؤلفون: Patricia Gerdes, Sue Mei Lim, Adam D. Ewing, Michael R. Larcombe, Dorothy Chan, Francisco J. Sanchez-Luque, Lucinda Walker, Alexander L. Carleton, Cini James, Anja S. Knaupp, Patricia E. Carreira, Christian M. Nefzger, Ryan Lister, Sandra R. Richardson, Jose M. Polo, Geoffrey J. Faulkner

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b8c17138d7be4d378e40d7894f019bb7

المؤلفون: Robin-Lee Troskie, Yohaann Jafrani, Tim R. Mercer, Adam D. Ewing, Geoffrey J. Faulkner, Seth W. Cheetham

المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Pseudogene, PacBio, Long-read, lncRNA, CRISPR, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/3702d87f702146c4889888e2897d0e4b

المؤلفون: Anna Y. Lee, Adam D. Ewing, Kyle Ellrott, Yin Hu, Kathleen E. Houlahan, J. Christopher Bare, Shadrielle Melijah G. Espiritu, Vincent Huang, Kristen Dang, Zechen Chong, Cristian Caloian, Takafumi N. Yamaguchi, ICGC-TCGA DREAM Somatic Mutation Calling Challenge Participants, Michael R. Kellen, Ken Chen, Thea C. Norman, Stephen H. Friend, Justin Guinney, Gustavo Stolovitzky, David Haussler, Adam A. Margolin, Joshua M. Stuart, Paul C. Boutros

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Somatic mutations, Simulation, Structural variants, Benchmarking, Cancer genomics, Whole-genome sequencing, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-018-1539-5; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/fca34c67ffed4790a306c9523e251762

المؤلفون: Melinda Burgess, Colm Keane, Josh WD Tobin, Soi C. Law, Alison Griffin, Devinder Gill, Adam D. Ewing, Victoria Atkinson, Peter Mollee, Muhammed B. Sabdia, Nicholas A. Saunders, Maher K. Gandhi

المصدر: Acta Haematologica. 146:166-171

مصطلحات موضوعية: Hematology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::236388909d6060e3de27b01caed13bbf
https://doi.org/10.1159/000527631

المؤلفون: Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: Autism, Kallmann syndrome, Whole-genome sequencing, Secondary findings, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300392; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/320529a3ed7948b4a5e6aa509d846d3b

المؤلفون: Thu H.M. Nguyen, Patricia E. Carreira, Francisco J. Sanchez-Luque, Stephanie N. Schauer, Allister C. Fagg, Sandra R. Richardson, Claire M. Davies, J. Samuel Jesuadian, Marie-Jeanne H.C. Kempen, Robin-Lee Troskie, Cini James, Elizabeth A. Beaven, Tristan P. Wallis, Jermaine I.G. Coward, Naven P. Chetty, Alexander J. Crandon, Deon J. Venter, Jane E. Armes, Lewis C. Perrin, John D. Hooper, Adam D. Ewing, Kyle R. Upton, Geoffrey J. Faulkner

المصدر: Cell Reports, Vol 23, Iss 13, Pp 3730-3740 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124718308714; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/02b2c6ba831b4bec8988f6149861dbe1

المؤلفون: Dorota H. Sendorek, Cristian Caloian, Kyle Ellrott, J. Christopher Bare, Takafumi N. Yamaguchi, Adam D. Ewing, Kathleen E. Houlahan, Thea C. Norman, Adam A. Margolin, Joshua M. Stuart, Paul C. Boutros

المصدر: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Cancer genomics, Next-generation sequencing, Mutation calling, Germline contamination, Germline leakage, Patient identifiability, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-018-2046-0; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/ab0b15f9663d47eca47e4595ae0cd171

المؤلفون: Seth W Cheetham, Michaela Kindlova, Adam D Ewing

المصدر: Bioinformatics. 38:3109-3112

مصطلحات موضوعية: Statistics and Probability, Nanopores, Computational Mathematics, Computational Theory and Mathematics, Molecular Biology, Biochemistry, Software, Computer Science Applications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::227261b4c3795e2664057ac88302402e
https://doi.org/10.1093/bioinformatics/btac292

المؤلفون: Elisabeth J. van Bree, Rita L.F.P. Guimarães, Mischa Lundberg, Elena R. Blujdea, Jimi L. Rosenkrantz, Fred T.G. White, Josse Poppinga, Paula Ferrer-Raventós, Anne-Fleur E. Schneider, Isabella Clayton, David Haussler, Marcel J.T. Reinders, Henne Holstege, Adam D. Ewing, Colette Moses, Frank M.J. Jacobs

المساهمون: Amsterdam Neuroscience - Neurodegeneration, VU University medical center

المصدر: van Bree, E J, Guimarães, R L F P, Lundberg, M, Blujdea, E R, Rosenkrantz, J L, White, F T G, Poppinga, J, Ferrer-Raventós, P, Schneider, A-F E, Clayton, I, Haussler, D, Reinders, M J T, Holstege, H, Ewing, A D, Moses, C & Jacobs, F M J 2022, ' A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci ', Genome Research, vol. 32, no. 4, pp. 656-670 . https://doi.org/10.1101/gr.275515.121
Genome Research, 32(4)
Genome Research, 32(4), 656-670. Cold Spring Harbor Laboratory Press
Genome research, vol 32, iss 4

مصطلحات موضوعية: Genome, Bioinformatics, Genome, Human, Human Genome, Quantitative Trait Loci, Neurosciences, Genetic Variation, Single Nucleotide, Biological Sciences, Medical and Health Sciences, Polymorphism, Single Nucleotide, Alu Elements, Neurological, Genetics, DNA Transposable Elements, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Polymorphism, Genetics (clinical), Human, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88dc0676d04715409fa4af9510f5ac6a
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85128488168&origin=inward

المؤلفون: Michaela Kindlova, Hannah Byrne, Jade M Kubler, Sarah E Steane, Jessica M Whyte, Danielle J Borg, Vicki L Clifton, Adam D Ewing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::97a1cbdad9e01afe0000915fc009d595
https://doi.org/10.1101/2023.02.13.528289