Results 1 to 10 of about 1,974,376 (233)
Quantifying negative selection on synonymous variants
HGG AdvancesSummary: Widespread adoption of DNA sequencing has resulted in large numbers of genetic variants, whose contribution to disease is not easily determined.
Mikhail Gudkov +2 more
doaj +5 more sources
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity ...
Tomoko Horinouchi +17 more
doaj +4 more sources
Synonymous Variants of Uncertain Silence [PDF]
International Journal of Molecular Sciences, 2023 Synonymous variants, traditionally regarded as silent mutations due to their lack of impact on protein sequence, structure and function, have been the subject of increasing scrutiny.
Jerome I Rotter +2 more
exaly +3 more sources
Inferring Potential Cancer Driving Synonymous Variants
Genes, 2022 Synonymous single nucleotide variants (sSNVs) are often considered functionally silent, but a few cases of cancer-causing sSNVs have been reported. From available databases, we collected four categories of sSNVs: germline, somatic in normal tissues ...
Yana Bromberg, Zishuo Zeng
exaly +3 more sources
Frontiers in Genetics, 2021 Next-generation sequencing is effective for the molecular diagnosis of genetic diseases. However, the identification of the clinical significance of synonymous variants remains a challenge. Our previous study showed that some synonymous variants in ATP7B
Xiaoying Zhou +7 more
doaj +4 more sources
In silico methods for predicting functional synonymous variants
Genome Biology, 2023 Single nucleotide variants (SNVs) contribute to human genomic diversity. Synonymous SNVs are previously considered to be “silent,” but mounting evidence has revealed that these variants can cause RNA and protein changes and are implicated in over 85 ...
Brian C. Lin +4 more
doaj +2 more sources
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
Frontiers in Medicine, 2022 BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng +3 more
doaj +2 more sources
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
Frontiers in Genetics, 2019 Recent advances in high-throughput experimentation have put the exploration of genome sequences at the forefront of precision medicine. In an effort to interpret the sequencing data, numerous computational methods have been developed for evaluating the ...
Zishuo Zeng +3 more
doaj +2 more sources
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.
Mauno Vihinen
doaj +2 more sources
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy
Frontiers in NeurologyObjectiveTo the literature, variants in the ATP6AP2 gene may cause abnormal nervous system development and associated neurological symptoms.MethodsWe report a patient with developmental and epileptic encephalopathy (DEE) carrying an ATP6AP2 c.858G > A
Yan Liang +20 more
doaj +2 more sources