Results 1 to 10 of about 874,379 (256)
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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Investigations into the molecular effects of single nucleotide polymorphism [PDF]
, 2000 Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
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PhysBinder : improving the prediction of transcription factor binding sites by flexible inclusion of biophysical properties [PDF]
, 2013 The most important mechanism in the regulation of transcription is the binding of a transcription factor (TF) to a DNA sequence called the TF binding site (TFBS). Most binding sites are short and degenerate, which makes predictions based on their primary
Broos, Stefan +5 more
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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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Comparative Viral Metagenomics of Environmental Samples from Korea [PDF]
Genomics & Informatics, 2013 The introduction of metagenomics into the field of virology has facilitated the exploration of viral communities in various natural habitats. Understanding the viral ecology of a variety of sample types throughout the biosphere is important per se, but ...
Min-Soo Kim, Tae Woong Whon, Jin-Woo Bae
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