Results 1 to 10 of about 12,192,107 (344)

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

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

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 Gilbert Conte Filho, Fabio Batista Mota   +2 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

Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease

Frontiers in Cell and Developmental Biology, 2021
Animal genomes are folded in topologically associating domains (TADs) that have been linked to the regulation of the genes they contain by constraining regulatory interactions between cis-regulatory elements and promoters. Therefore, TADs are proposed as
Juan J. Tena, José M. Santos-Pereira
doaj   +1 more source

Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

International Journal of Molecular Sciences, 2021
Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of patients concerned account for approximatively 400 million peoples ...
Lucie Crouzier, Elodie M. Richard, Jo Sourbron, L. Lagae, T. Maurice, B. Delprat   +5 more
semanticscholar   +1 more source

Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth

Molecular Genetics & Genomic Medicine, 2023
Background Copy number variation sequencing (CNV‐seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF‐PCR) is a supplementary method to CNV‐seq in triploid detection.
Quan Chen, Hao Zhang, Xue Li, Junxing Li, Huijuan Chen, Lin Liu, Shijie Zhou, Zhihong Xu   +7 more
doaj   +1 more source