Results 1 to 10 of about 1,458 (100)
Quantifying negative selection on synonymous variants
Human Genetics and Genomics AdvancesSummary: Widespread adoption of DNA sequencing has resulted in large numbers of genetic variants, whose contribution to disease is not easily determined.
Mikhail Gudkov, Eleni Giannoulatou
exaly +5 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 ...
Yana Bromberg, Zishuo Zeng
exaly +5 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 +3 more sources
Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant [PDF]
Frontiers in Oncology, 2022 Breast cancer gene 1 (BRCA1) and BRCA2 are tumor suppressors involved in DNA damage response and repair. Carriers of germline pathogenic or likely pathogenic variants in BRCA1 or BRCA2 have significantly increased lifetime risks of breast cancer, ovarian
Jun Li +23 more
doaj +3 more sources
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. [PDF]
PLoS ONE, 2012 Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s).
Nathan C Edwards +20 more
doaj +4 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
Zhanjun Jia +2 more
exaly +3 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 +3 more sources
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 ...
Tomohiko Yamamura +2 more
exaly +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
Guang Yang, Lin Wan
exaly +3 more sources
Capture Sequencing to Explore and Map Rare Casein Variants in Goats
Frontiers in Genetics, 2021 Genetic variations in the four casein genes CSN1S1, CSN2, CSN1S2, and CSN3 have obtained substantial attention since they affect the milk protein yield, milk composition, cheese processing properties, and digestibility as well as tolerance in human ...
Siham A. Rahmatalla +7 more
doaj +1 more source