Results 1 to 10 of about 11,828,008 (230)

Routes for breaching and protecting genetic privacy [PDF]

arXiv, 2013
We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators.
A Acquisti, A Cavoukian, A Kong, A Machanavajjhala, A Narayanan, AD Johnson, AJ Pakstis, AK Manning, AL McGuire, Arvind Narayanan, B Fons, B Malin, B Malin, BA Malin, BM Henn, C Dwork, C Shannon, CD Huff, D Clayton, D He, D Zubakov, DJ Solve, DR Nyholt, DW Craig, EA Zerhouni, EE Schadt, EM Ramos, F Liu, G Church, H Lango Allen, H Li, HK Im, HS Venter, J Burn, J Gitschier, J Kaiser, J Kaye, J Kaye, J Lee, J Marchini, JE Lunshof, JH Park, JM Oliver, JP Roberts, K Benitez, K El Emam, K El Emam, K Silventoinen, KA Tryka, KB Jacobs, KS Kendler, L Kamm, L Sweeney, L Sweeney, LA Sweeney, LA Sweeney, LAP Kohn, LL Rodriguez, M Canim, M Gymrek, M Gymrek, M Kantarcioglu, M Kayser, MD Mailman, N Chatterjee, N Homer, NN Taleb, P Bohannon, P Kwok, P Ohm, P Paillier, PM Visscher, R Braun, R Drmanac, R Khan, R Noumeir, RL Bennett, S Byers, S McClure, S Sankararaman, S Walsh, SE Brenner, SF Terry, SH Friend, T Lumley, TE King, TE King, V Bafna, W Fu, W Hartzog, WG Hill, WW Lowrance, XL Ou, Yaniv Erlich, Z Lin   +94 more
arxiv   +3 more sources

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet.
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
arxiv   +5 more sources

Cataract and genetic diseases [PDF]

Quality in Sport
Despite the decreasing number of cases, cataract is still the leading cause of visual impairment and blindness worldwide. The search for the causes of this disease, its risk factors and the relationship with systemic diseases is the subject of many ...
Mateusz Kozik, Nina Skalska-Dziobek, Weronika Małagocka, Maria Rozpłoch-Sapa, Karolina Chybowska, Mateusz Orłowski, Maria Naruszewicz, Przemysław Cetnarowski, Aleksandra Midro, Karol Zagórski   +9 more
doaj   +3 more sources

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Nature Communications, 2022
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately.
Mallory J. Owen, S. Lefebvre, Christian Hansen, Chris M. Kunard, D. Dimmock, Laurie D. Smith, G. Scharer, R. Mardach, M. J. Willis, A. Feigenbaum, A. Niemi, Yan Ding, L. Van Der Kraan, Katarzyna A Ellsworth, L. Guidugli, B. Lajoie, Tim K McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Y. Kwon, Zhanyang Zhu, Serge Batalov, S. Chowdhury, Seema Rego, James Perry, M. Speziale, M. Nespeca, M. Wright, M. G. Reese, Francisco M. De La Vega, Joe Azure, E. Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, S. Gilmer, Gail Knight, Albert Oriol, J. Lenberg, S. Nahas, K. Perofsky, Kyu Kim, Jeanne Carroll, N. Coufal, E. Sanford, Kristen M Wigby, J. Weir, Vicki S Thomson, L. Fraser, Seka S Lazare, Yoon H Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, P. Daigle, Annette Case, Marisa Lue, James A. Richardson, J. Reynders, Thomas Defay, K. Hall, N. Veeraraghavan, S. Kingsmore   +64 more
semanticscholar   +1 more source

Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years?

Therapeutic Advances in Rare Disease, 2022
Introduction: Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death.
L. Braga, Carlos Conte Filho, Fabio Batista Mota   +2 more
semanticscholar   +1 more source

Deep learning for diagnosing patients with rare genetic diseases

medRxiv, 2022
There are more than 7,000 rare diseases, some of which affect 3,500 or fewer patients in the US. Due to clinicians' limited experience with such diseases and the considerable heterogeneity of their clinical presentations, many patients with rare genetic ...
Emily Alsentzer, M. M. Li, S. Kobren, Undiagnosed Diseases Network, I. Kohane, M. Zitnik   +5 more
semanticscholar   +1 more source

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Genome Medicine, 2021
Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases.
Francisco M. De La Vega, S. Chowdhury, Barry Moore, E. Frise, J. McCarthy, E. Hernandez, Terence Wong, Kiely N. James, L. Guidugli, P. Agrawal, C. Genetti, C. Brownstein, A. Beggs, B. Löscher, A. Franke, B. Boone, S. Levy, K. Õunap, S. Pajusalu, M. Huentelman, K. Ramsey, M. Naymik, V. Narayanan, N. Veeraraghavan, P. Billings, M. G. Reese, M. Yandell, S. Kingsmore   +27 more
semanticscholar   +1 more source

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Scientific Reports, 2023
To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been ...
Hao Zhang, Zhihong Xu, Quan Chen, Huijuan Chen, Xiaoli Ding, Lin Liu, Yuanyuan Xiao   +6 more
doaj   +1 more source

Network location and clustering of genetic mutations determine chronicity in a stylized model of genetic diseases [PDF]

Sci Rep 12, 19906 (2022), 2022
In a highly simplified view, a disease can be seen as the phenotype emerging from the interplay of genetic predisposition and fluctuating environmental stimuli. We formalize this situation in a minimal model, where a network (representing cellular regulation) serves as an interface between an input layer (representing environment) and an output layer ...
arxiv   +1 more source

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

Molecular Genetics & Genomic Medicine, 2021
Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions ...
David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden, Ahron Ekstein, Josef Ekstein   +11 more
doaj   +1 more source