Results 71 to 80 of about 193,929 (313)

Application of Sequence Embedding in Protein Sequence-Based Predictions [PDF]

arXiv, 2021
In sequence-based predictions, conventionally an input sequence is represented by a multiple sequence alignment (MSA) or a representation derived from MSA, such as a position-specific scoring matrix. Recently, inspired by the development in natural language processing, several applications of sequence embedding have been observed.
arxiv  

Incidental Medical Information in Whole-Exome Sequencing [PDF]

Pediatrics, 2012
Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We
Pedro Cruz, Praveen F. Cherukuri, Benjamin E. Berkman, Aparna Kamat, Jamie K. Teer, Nancy F. Hansen, Alice C. Young, Daniel E. Pineda-Alvarez, James C. Mullikin, Nisc Comparative Sequencing Program, Donald W. Hadley, Settara C. Chandrasekharappa, Benjamin D. Solomon   +12 more
openaire   +3 more sources

Pseudorandom binary sequences: quality measures and number-theoretic constructions [PDF]

arXiv, 2023
In this survey we summarize properties of pseudorandomness and non-randomness of some number-theoretic sequences and present results on their behaviour under the following measures of pseudorandomness: balance, linear complexity, correlation measure of order $k$, expansion complexity and $2$-adic complexity.
arxiv  

Whole exome sequence analysis of Peters anomaly [PDF]

Human Genetics, 2014
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Natalie Hauser, Patricia G. Wheeler, Elena V. Semina, Karen L. David, Eric Weh, Alex V. Levin, Linda M. Reis, Brad Angle, Erin Carney, Hannah Happ   +9 more
openaire   +3 more sources

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Another Set of Sequences, Sub-Sequences, and Sequences of Sequences [PDF]

arXiv, 2000
In this paper 101 new integer sequences, sub-sequences, and sequences of sequences, together with related unsolved problems and conjectures, are presented. Also, definitions, examples, solved or open questions, and references for each sequence are given.
arxiv  

Integer Sequences: Irregular Arrays and Intra-Block Permutations [PDF]

arXiv, 2023
This article investigates integer sequences that partition the sequence into blocks of various lengths - irregular arrays. The main result of the article is explicit formulas for numbering of irregular arrays. A generalization of Cantor diagonal method is proposed. We also define and describe intra-block permutations of natural numbers. Generalizations
arxiv  

Whole-exome sequencing in evaluation of patients with venous thromboembolism [PDF]

Blood Advances, 2017
Key PointsUsing WES, we designed an extended thrombophilia panel consisting of 55 genes of significance to thrombosis. The extended thrombophilia panel identified multiple novel genetic variants with predicted roles in thrombosis or thrombophilia.
Lee, Eun-Ju, Dykas, Daniel J, Leavitt, Andrew D, Camire, Rodney M, Ebberink, Eduard H T M, García de Frutos, Pablo, Gnanasambandan, Kavitha, Gu, Sean X, Huntington, James A, Lentz, Steven R, Mertens, Koen, Parish, Christopher R, Rezaie, Alireza R, Sayeski, Peter P, Cromwell, Caroline, Bar, Noffar, Halene, Stephanie, Neparidze, Natalia, Parker, Terri L, Burns, Adrienne J, Dumont, Anne, Yao, Xiaopan, Chaar, Cassius Iyad Ochoa, Connors, Jean M, Bale, Allen E, Lee, Alfred Ian   +25 more
openaire   +7 more sources

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract

Cancer Communications, Volume 42, Issue 12, Page 1367-1386, December 2022., 2022
Abstract Background Neuroendocrine carcinomas of the gastrointestinal tract (GI‐NECs) remain a disease of grim prognosis with limited therapeutic options. Their molecular characteristics are still undefined. This study aimed to explore the underlying genetic basis and heterogeneity of GI‐NECs.
Huanwen Wu, Zicheng Yu, Yueping Liu, Lei Guo, Lianghong Teng, Lingchuan Guo, Li Liang, Jing Wang, Jie Gao, Ruiyu Li, Ling Yang, Xiu Nie, Dan Su, Zhiyong Liang   +13 more
wiley   +1 more source