Results 41 to 50 of about 475,380 (299)

Contribution of rare copy number variants to isolated human malformations. [PDF]

PLoS ONE, 2012
BACKGROUND: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is ...
Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado   +6 more
doaj   +1 more source

Association of Rare Copy Number Variants With Risk of Depression

JAMA psychiatry, 2019
Key Points Question Are rare copy number variants associated with depression in a large population sample? Findings In this case-control study of 407 074 individuals in the UK Biobank study, neurodevelopmental disorder copy number variants appear to be ...
K. Kendall, E. Rees, Matthew Bracher-Smith, S. Legge, L. Riglin, S. Zammit, M. O’Donovan, M. Owen, I. Jones, G. Kirov, J. Walters   +10 more
semanticscholar   +1 more source

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Nature Communications, 2020
Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry ...
Yun Li, J. Glessner, Bradley P. Coe, Jin Li, Maede Mohebnasab, X. Chang, J. Connolly, Charlly Kao, Zhi Wei, J. Bradfield, Cecilia Kim, C. Hou, Munir Khan, F. Mentch, H. Qiu, M. Bakay, C. Cardinale, Maria Lemma, D. Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, S. Harrison, G. Otieno, Alexandria Thomas, Fengxiang Wang, R. Chiavacci, Lawrence Wu, D. Hadley, E. Goldmuntz, J. Elia, J. Maris, R. Grundmeier, M. Devoto, B. Keating, Michael E. March, Renata Pellagrino, S. Grant, P. Sleiman, Mingyao Li, E. Eichler, H. Hakonarson   +40 more
semanticscholar   +1 more source

Copy Number Variants, Aneuploidies, and Human Disease [PDF]

Clinics in Perinatology, 2015
In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these
Christa Lese, Martin, Brianne E, Kirkpatrick, David H, Ledbetter   +2 more
openaire   +2 more sources

Copy number variants, diseases and gene expression [PDF]

Human Molecular Genetics, 2009
Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using ...
Henrichsen, Charlotte N., Chaignat, Evelyne, Reymond, Alexandre   +2 more
openaire   +3 more sources

Rare germline copy number variants (CNVs) and breast cancer risk

Communications Biology, 2022
Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset.
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla, Qin Wang, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Hermann Brenner, Jose E. Castelao, Jenny Chang-Claude, Georgia Chenevix-Trench, Christine L. Clarke, NBCS Collaborators, J. Margriet Collée, CTS Consortium, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Laure Dossus, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G. Giles, Anna González-Neira, Pascal Guénel, Eric Hahnen, Christopher A. Haiman, Per Hall, Antoinette Hollestelle, Reiner Hoppe, John L. Hopper, Anthony Howell, ABCTB Investigators, kConFab/AOCS Investigators, Agnes Jager, Anna Jakubowska, Esther M. John, Nichola Johnson, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Renske Keeman, Elza Khusnutdinova, Cari M. Kitahara, Yon-Dschun Ko, Veli-Matti Kosma, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, James V. Lacey, Diether Lambrechts, Nicole L. Larson, Martha Linet, Alicja Ogrodniczak, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Taru A. Muranen, Rachel A. Murphy, Heli Nevanlinna, Janet E. Olson, Håkan Olsson, Tjoung-Won Park-Simon, Charles M. Perou, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Katri Pylkäs, Gad Rennert, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Rana Shibli, Ann Smeets, Penny Soucy, Melissa C. Southey, Anthony J. Swerdlow, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Mary Beth Terry, Ian Tomlinson, Melissa A. Troester, Thérèse Truong, Celine M. Vachon, Camilla Wendt, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Argyrios Ziogas, Jacques Simard, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton   +123 more
doaj   +1 more source

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.

American Journal of Psychiatry, 2019
OBJECTIVE: Both rare copy number variants (CNVs) and common single-nucleotide polymorphisms (SNPs) contribute to liability to schizophrenia, but their etiological relationship has not been fully elucidated. The authors evaluated an additive model whereby
Sarah L Bergen, A. Ploner, D. Howrigan, M. O’Donovan, J. Smoller, P. Sullivan, J. Sebat, B. Neale, K. Kendler   +8 more
semanticscholar   +1 more source

Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis

Nature Medicine, 2021
Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the development of hematological malignancies (HM) and cardiovascular diseases.
R. Saiki, Y. Momozawa, Y. Nannya, M. Nakagawa, Y. Ochi, T. Yoshizato, C. Terao, Y. Kuroda, Y. Shiraishi, K. Chiba, Hiroko Tanaka, A. Niida, S. Imoto, K. Matsuda, T. Morisaki, Y. Murakami, Y. Kamatani, S. Matsuda, M. Kubo, S. Miyano, H. Makishima, S. Ogawa   +21 more
semanticscholar   +1 more source

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine, 2021
Background Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to ...
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi   +12 more
doaj   +1 more source

Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.

Lancet psychiatry, 2019
BACKGROUND Several copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (referred to as ND-CNVs).
S. Chawner, M. Owen, P. Holmans, L. Raymond, L. Raymond, D. Skuse, J. Hall, M. Bree   +7 more
semanticscholar   +1 more source