Results 1 to 10 of about 1,508,664 (262)
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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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 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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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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Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort [PDF]
Anais Brasileiros de Dermatologia, 2016 BACKGROUND: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. OBJECTIVES: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative ...
Kunju Zhu +4 more
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Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations
Haematologica, 2014 Somatic mutations of TET2, IDH1, and IDH2 have been described in myelodysplastic syndrome. The impact of these mutations on outcome of myelodysplastic syndrome and their progression to secondary acute myeloid leukemia remains unclear.
Tung-Liang Lin +18 more
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California Fish and Wildlife Journal, 2021 The Trinity bristle snail (Monadenia setosa) is listed as a threatened species under the California Endangered Species Act (CESA). In northern California, populations of this endemic terrestrial gastropod occur in rare, isolated, and highly fragmented ...
Robert M. Sullivan
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Memorias do Instituto Oswaldo Cruz, 2013 As the distribution of Candida species and their susceptibility to antifungal agents have changed, a new means of accurately and rapidly identifying these species is necessary for the successful early resolution of infection and the subsequent reduction ...
Constanza Giselle Taverna +6 more
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