Results 51 to 60 of about 1,458 (100)
Genetic variants analysis of three dromedary camels using whole genome sequencing data. [PDF]
PLoS ONE, 2018 Whole genome wide identification and annotation of genetic variations in camels is in its first steps. The aim of this study was the identification of genome wide variants, functional annotations of them and enrichment analysis of affected genes using ...
Reza Khalkhali-Evrigh +4 more
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Frontiers in MicrobiologyIntroductionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative agent of the global coronavirus disease 2019 (COVID-19) pandemic and continues to drive successive waves of infection through the emergence of novel variants ...
Kyuyoung Lee +18 more
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Systematic errors in annotations of truncations, loss-of-function and synonymous variants
Frontiers in Genetics, 2023 Description of genetic phenomena and variations requires exact language and concepts. Vast amounts of variation data are produced with next-generation sequencing pipelines. The obtained variations are automatically annotated, e.g., for their functional consequences.
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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease [PDF]
Human Molecular Genetics, 2013 Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect one or both mutations.
Braun, Terry A. +14 more
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Investigation of Polymorphisms in Coding Region of OsHKT1 in Relation to Salinity in Rice
Rice Science, 2016 Rice (Oryza sativa) is sensitive to salinity, but the salt tolerance level differs among cultivars, which might result from natural variations in the genes that are responsible for salt tolerance.
Pham Quynh-Hoa +7 more
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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
American Journal of Medical Genetics Part A, 2019 AbstractHartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, central diabetes insipidus, vertebral ...
Carolina Courage +10 more
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Composites Variants and Cognate Synonyms. Problems of Lexicographical Description [PDF]
Philology. Theory & Practice, 2020 The article considers the problem of variability of composites in the aspect of their lexicographical description in a special dictionary. By the material of the “Russian Dictionary of Synonyms. Composites”, the author examines the methodology of lexicographical description of composites variants and cognate synonyms-composites.
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Molecular Genetics & Genomic MedicineBackground Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang +5 more
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Bioinformatics and Biology Insights, 2007 We performed high-throughput cDNA sequencing in colorectal adenocarcinoma and matching normal colorectal epithelium. All six hundred three genes in the UCSC database that were expressed in colon cancers and contained open reading frames of 1000 ...
Takatsugu Kan +13 more
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Molecular Genetics & Genomic MedicineBackground Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing.
Liya Wang +8 more
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