An auditory display tool for DNA sequence analysis [PDF]
BMC Bioinformatics, 2017 Background DNA Sonification refers to the use of an auditory display to convey the information content of DNA sequence data. Six sonification algorithms are presented that each produce an auditory display. These algorithms are logically designed from the
Mark D. Temple
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DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously [PDF]
Frontiers in Molecular Biosciences, 2017 Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling.
Moyra Smith
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DNA sequence analysis landscape: a comprehensive review of DNA sequence analysis task types, databases, datasets, word embedding methods, and language models [PDF]
Frontiers in MedicineDeoxyribonucleic acid (DNA) serves as fundamental genetic blueprint that governs development, functioning, growth, and reproduction of all living organisms. DNA can be altered through germline and somatic mutations. Germline mutations underlie hereditary
Muhammad Nabeel Asim +7 more
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Review on the Application of Machine Learning Algorithms in the Sequence Data Mining of DNA
Frontiers in Bioengineering and Biotechnology, 2020 Deoxyribonucleic acid (DNA) is a biological macromolecule. Its main function is information storage. At present, the advancement of sequencing technology had caused DNA sequence data to grow at an explosive rate, which has also pushed the study of DNA ...
Aimin Yang +5 more
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Distinguishing regional from within-codon rate heterogeneity in DNA sequence alignments [PDF]
, 2009 We present an improved phylogenetic factorial hidden Markov model (FHMM) for detecting two types of mosaic structures in DNA sequence alignments, related to (1) recombination and (2) rate heterogeneity.
Husmeier, D. +4 more
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Computational analysis of CpG site DNA methylation [PDF]
, 2013 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Epigenetics is the study of factors that can change DNA and passed to next generation without change to DNA sequence.
Ghorbani, Mohammadmersad
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Addressing the shortcomings of three recent bayesian methods for detecting interspecific recombination in DNA sequence alignments [PDF]
, 2008 We address a potential shortcoming of three probabilistic models for detecting interspecific recombination in DNA sequence alignments: the multiple change-point model (MCP) of Suchard et al. (2003), the dual multiple change-point model (DMCP) of Minin et
Mantzaris, Alexander Vassilios +1 more
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Sequencing analysis of HPV-other type on an HPV DNA chip [PDF]
Obstetrics & Gynecology Science, 2018 ObjectivesTo identify the specific human papillomavirus (HPV) genotypes from HPV-other type on an HPV DNA chip test by sequencing.MethodsAmong 13,600 women undergoing a routine gynecology examination including Pap smear and/or HPV test by DNA chip test ...
Min-Jeong Kim, Jin Ju Kim, Sunmie Kim
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AnsNGS: An Annotation System to Sequence Variations of Next Generation Sequencing Data for Disease-Related Phenotypes [PDF]
Healthcare Informatics Research, 2013 ObjectivesNext-generation sequencing (NGS) data in the identification of disease-causing genes provides a promising opportunity in the diagnosis of disease.
Young-Ji Na, Yonglae Cho, Ju Han Kim
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln) [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2019 Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located
Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
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