المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, OHeir, Emily, Ganesh, Vijay, Wojcik, Monica, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha, Neil, Jennifer, Shao, Diane, Walsh, Christopher, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott, Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay, Madden, Jill, Genetti, Casie, Beggs, Alan, Agrawal, Pankaj, Bujakowska, Kinga, Place, Emily, Pierce, Eric, Donkervoort, Sandra, Bönnemann, Carsten, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan, Töpf, Ana, Straub, Volker, Fleming, Mark, Pollak, Martin, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel, MacArthur, Daniel, Rehm, Heidi, Talkowski, Michael, Brand, Harrison, ODonnell-Luria, Anne

المصدر: American Journal of Human Genetics. 111(5)

مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification, Humans, DNA Copy Number Variations, Rare Diseases, Exome, Male, Female, Exome Sequencing, Cohort Studies, Genetic Testing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3s20v4vs
https://escholarship.org/content/qt3s20v4vs/qt3s20v4vs.pdf

المؤلفون: Alan F. Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J. Capodanno, Estelle Y. Da, Mafalda Dias, Daniel Esposito, Jonathan Frazer, Yunfan Fu, Sally B. Grindstaff, Matthew R. Harrington, Iris Li, Abbye E. McEwen, Joseph K. Min, Nick Moore, Olivia G. Moscatelli, Jesslyn Ong, Polina V. Polunina, Joshua E. Rollins, Nathan J. Rollins, Ashley E. Snyder, Amy Tam, Matthew J. Wakefield, Shenyi Sunny Ye, Lea M. Starita, Vanessa L. Bryant, Debora S. Marks, Douglas M. Fowler

المصدر: Genome Biology, Vol 26, Iss 1, Pp 1-11 (2025)

مصطلحات موضوعية: Multiplexed assays of variant effect, MAVEs, Deep mutational scanning, DMS, Variant classification, Functional genomics, 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/ba9a42dc87a94fe5934470d48abb6160

المؤلفون: John Michael O. Ranola, Carolyn Horton, Tina Pesaran, Shawn Fayer, Lea M. Starita, Brian H. Shirts

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Information theory, Variant classification, Genetic information, Summary data, Entropy, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/ffadb78f8aba4f698e342142a3f2c959

المؤلفون: Zanti, Maria, O′Mahony, Denise G, Parsons, Michael T, Li, Hongyan, Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brown, Melissa A, Buys, Saundra S, Canzian, Federico, Caputo, Sandrine M, Castelao, Jose E, Chang-Claude, Jenny, Collaborators, GC-HBOC study, Czene, Kamila, Daly, Mary B, De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Gentry-Maharaj, Aleksandra, Giele, Willemina RR Geurts-, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Garcia, Encarna B Gómez, Güendert, Melanie, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Houdayer, Claude, Houlston, Richard S, Howell, Anthony, Investigators, ABCTB, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M, Kaaks, Rudolf, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Lacey, James V, Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L, Monteiro, Alvaro N, Murphy, Rachel A, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Park, Sue K, James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U, Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H, Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, Shu, Xiao-Ou

المصدر: Human Mutation. 2023(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Cancer, Prevention, Breast Cancer, Genetic Testing, Biotechnology, Women's Health, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Case-Control Studies, BRCA2 Protein, Genetic Predisposition to Disease, Female, BRCA1 Protein, Breast Neoplasms, Likelihood Functions, Genetic Variation, Penetrance, GC-HBOC study Collaborators, ABCTB Investigators, ACMG/AMP, BRCA, PS4, VUS, case-control, likelihood ratio, variant classification, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/08s649pw
https://escholarship.org/content/qt08s649pw/qt08s649pw.pdf

المؤلفون: Amina Kurtovic-Kozaric, Lejla Delalic, Belma Mutapcic, Lejla Comor, Eric Siciliano, Mark J. Kiel

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: variants of unknown significance, VUS, AlphaMissense, ACMG/AMP classification, variant classification, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1487608/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9d9e78b4156146588b45a156dc77630e

المؤلفون: Emanuele Bonetti, Giulia Tini, Luca Mazzarella

المصدر: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Variant classification, Machine learning, Precision medicine, Genomics, Random forest, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/582729201f5a4071800db167044ddad5

المؤلفون: Gunning, A.

المساهمون: Wright, Caroline F., Baple, Emma L.

مصطلحات موضوعية: Variant classification, missense variant, protein domain, ATAD3, ATAD3 gene cluster, Harel-Yoon, NAHR, cardiomyopathy, cholesterol, metabolic disorder, mitochondrial DNA, non-allelic homologous recombination, meta-predictor, variant interpretation, ACMG, ACMG/ACGS

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.884430

المؤلفون: Singer-Berk, Moriel, Gudmundsson, Sanna, Baxter, Samantha, Seaby, Eleanor G., England, Eleina, Wood, Jordan C., Son, Rachel G., Watts, Nicholas A., Karczewski, Konrad J., Harrison, Steven M., MacArthur, Daniel G., Rehm, Heidi L., O'Donnell-Luria, Anne

المصدر: American Journal of Human Genetics. 110(9):1496-1508

مصطلحات موضوعية: gnomAD, pLoF, population data, predicted loss-of-function variants, PVS1, variant classification, variant interpretation

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-336291
https://doi.org/10.1016/j.ajhg.2023.08.005

المؤلفون: Mehmet Arif Ergun, Omer Cinal, Berkant Bakışlı, Abdullah Asım Emül, Mehmet Baysan

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: NGS Analysis, Variant classification, Variant annotation, Copy number variation, Microsatellite instability, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/e4920c7c08214fa6b988e50cd4930490

المؤلفون: Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx

المصدر: Frontiers in Veterinary Science, Vol 11 (2024)

مصطلحات موضوعية: cardiac disease, feline genetics, variant classification, ACMG guidelines, genetic diversity, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fvets.2024.1458433/full; https://doaj.org/toc/2297-1769

URL الوصول: https://doaj.org/article/0c8f7bb9e3d446b4be5eba641a017691

المؤلفون: Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J. Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E. Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K. Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T. Parsons, Thomas V. O. Hansen, Maria Rossing, Torben A. Kruse, Amanda B. Spurdle, Mads Thomassen

المصدر: Breast Cancer Research, Vol 26, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: BRCA1, Dual carrier, Fanconi Anemia, Variant classification, Exon duplication, Transcription activation domain assay, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1465-542X

URL الوصول: https://doaj.org/article/7555813f6f454c71871a5c318d759708

المؤلفون: Adam Colin Gunning, Caroline Fiona Wright

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Variant classification, Missense variant, Protein domain, Bayesian, Genomic medicine, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/9849c784912e438dbf464850d6adbbc3

المؤلفون: Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: PS4, ACMG/AMP guidelines, Variant classification, Cohort dataset, Hearing loss, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/cde1251227894591acb952b830dfdbce

المؤلفون: Bender, Chelsea, Woo, Elizabeth Geena, Guan, Bin, Ullah, Ehsan, Feng, Eric, Turriff, Amy, Tumminia, Santa J, Sieving, Paul A, Cukras, Catherine A, Hufnagel, Robert B

المصدر: Genes. 13(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Eye Proteins, Female, Founder Effect, Genes, X-Linked, Humans, Male, Mutation, Retinoschisis, X-linked disorder, X-linked retinoschisis, RS1, variant classification, ACMG/ AMP variant interpretation guideline, founder effect, haplotype analysis, ACMG/AMP variant interpretation guideline

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/27356351
https://escholarship.org/content/qt27356351/qt27356351.pdf

المؤلفون: Hu, Yuepeng, Chen, Jian-Min, Zuo, Han, Pu, Na, Zhang, Guofu, Duan, Yichen, Li, Gang, Tong, Zhihui, Li, Weiqin, Li, Baiqiang, Yang, Qi

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: ISSN: 1476-511X ; Lipids in Health and Disease ; https://hal.science/hal-04668620 ; Lipids in Health and Disease, 2024, 23 (1), pp.92. ⟨10.1186/s12944-024-02086-0⟩.

مصطلحات موضوعية: Biallelic variants Compound heterozygote Disease expression and severity Familial chylomicronemia syndrome Genotype/phenotype relationship Hypertriglyceridemia-induced acute pancreatitis during pregnancy Lipoprotein lipase Partial loss-of-function variant Triglyceride Variant classification, Biallelic variants, Compound heterozygote, Disease expression and severity, Familial chylomicronemia syndrome, Genotype/phenotype relationship, Hypertriglyceridemia-induced acute pancreatitis during pregnancy, Lipoprotein lipase, Partial loss-of-function variant, Triglyceride, Variant classification, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04668620
https://hal.science/hal-04668620v1/document
https://hal.science/hal-04668620v1/file/12944_2024_Article_2086.pdf
https://doi.org/10.1186/s12944-024-02086-0

المؤلفون: F. Boeykens, M. Abitbol, J. J. Hayward, Å. Ohlsson, H. Anderson, J. Häggström, I. Ljungvall, L. A. Lyons, M. Longeri, M. D. Kittleson, E. Lepri, T. Vezzosi, L. Peelman, C. Dufaure de Citres, P. Smets, F. van Steenbeek, B. J. G. Broeckx

المساهمون: F. Boeyken, M. Abitbol, J.J. Hayward, Å. Ohlsson, H. Anderson, J. Häggström, I. Ljungvall, L.A. Lyon, M. Longeri, M.D. Kittleson, E. Lepri, T. Vezzosi, L. Peelman, C. Dufaure de Citre, P. Smet, F. van Steenbeek, B.J.G. Broeckx

مصطلحات موضوعية: feline, variant classification guideline, Mendelian diseases, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico

Relation: ispartofbook:Canine and Feline Genetics and Genomies : Programme and Abstract; ICCFGG; firstpage:68; lastpage:68; numberofpages:1; https://hdl.handle.net/2434/1062628; https://www.helsinki.fi/assets/drupal/2024-06/ICCFGG 2024 Programme & Abstract Book.pdf

الاتاحة: https://hdl.handle.net/2434/1062628
https://www.helsinki.fi/assets/drupal/2024-06/ICCFGG 2024 Programme & Abstract Book.pdf

المؤلفون: Dario, Paulo, Vaz, Margarida, Gaspar, Gisela, Bourbon, Mafalda

مصطلحات موضوعية: MODY Diabetes, Gene-specific Guidelines, Variant Classification, Doenças Cardio e Cérebro-vasculares

Relation: http://hdl.handle.net/10400.18/8857

الاتاحة: http://hdl.handle.net/10400.18/8857

المؤلفون: Dario, Paulo, Vaz, Margarida, Gaspar, Gisela, Bourbon, Mafalda

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: MODY Diabetes, Gene-specific Guidelines, Variant Classification, Doenças Cardio e Cérebro-vasculares

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/8857

المؤلفون: Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt-Robinson, Kristina, Gebre-Medhin, Samuel

المصدر: Genes, Chromosomes and Cancer. 61(10):585-591

مصطلحات موضوعية: colorectal cancer, genetic testing, hereditary, polyposis, syndrome, variant classification

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194893
https://doi.org/10.1002/gcc.23049
https://umu.diva-portal.org/smash/get/diva2:1665135/FULLTEXT02.pdf

المؤلفون: Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

المصدر: Human Mutation. 43(7):832-858

مصطلحات موضوعية: achromatopsia, CNGA3, cyclic nucleotide-gated ion channel, in silico analysis, variant classification, variant spectrum, medicinsk genetik, Medical Genetics

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641
https://doi.org/10.1002/humu.24371
https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdf