Results 21 to 30 of about 193,929 (313)

Sequence-to-Sequence Imputation of Missing Sensor Data [PDF]

In: Liu J., Bailey J. (eds) AI 2019: Advances in Artificial Intelligence. AI 2019. Lecture Notes in Computer Science, vol 11919. Springer, Cham, 2020
Although the sequence-to-sequence (encoder-decoder) model is considered the state-of-the-art in deep learning sequence models, there is little research into using this model for recovering missing sensor data. The key challenge is that the missing sensor data problem typically comprises three sequences (a sequence of observed samples, followed by a ...
arxiv   +1 more source

Whole Exome Sequencing

Rinsho Shinkeigaku, 2010
Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Jeffery M. Vance, Karen Nuytemans
openaire   +4 more sources

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Zbigniew K. Wszolek, Monika Rudzińska-Bar, Satya R. Vemula, Elizabeth J. Trimble, Jay A. van Gerpen, Peter Hedera, Jianfeng Xiao, Angelo Fabio Gigante, Simona Petrucci, Giovanni Defazio, Giovanni Defazio, Enza Maria Valente, Kathleen D. Kennelly, Mark S. LeDoux, Jun Tian, Jun Tian, Ryan J. Uitti   +16 more
openaire   +5 more sources

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Нервно-мышечные болезни, 2020
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and ...
O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov   +8 more
doaj   +1 more source

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Mutation discovery in mice by whole exome sequencing [PDF]

Genome Biology, 2011
AbstractWe report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background.
Fairfield, Heather, Gilbert, Griffith J, Barter, Mary, Corrigan, Rebecca R, Curtain, Michelle, Ding, Yueming, D'Ascenzo, Mark, Gerhardt, Daniel J, He, Chao, Huang, Wenhui, Richmond, Todd, Rowe, Lucy, Probst, Frank J, Bergstrom, David E, Murray, Stephen A, Bult, Carol, Richardson, Joel, Kile, Benjamin T, Gut, Ivo, Hager, Jorg, Sigurdsson, Snaevar, Mauceli, Evan, Di Palma, Federica, Lindblad-Toh, Kerstin, Cunningham, Michael L, Cox, Timothy C, Justice, Monica J, Spector, Mona S, Lowe, Scott W, Albert, Thomas, Donahue, Leah Rae, Jeddeloh, Jeffrey, Shendure, Jay, Reinholdt, Laura G   +33 more
openaire   +4 more sources

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 more
doaj   +1 more source