The destroyed functions due to some false-negative mutations may arise because of a reprieve from the epigenetic repressed state which shouldn't happen in multiple biological conditions, instead of the defective protein. Our work adds more to our knowledge of non-synonymous SNVs' pathogenicity, ...
Precise classification of non-synonymous single nucleotide variants (SNVs) is a fundamental goal of clinical genetics. Next-generation sequencing technology is effective for establishing the basis of genetic diseases. However, identification of variants
However, conducting recurrent experiments on all non-synonymous single nucleotide polymorphisms (nsSNPs) is time-consuming. Therefore, the methods used in this analysis support the various outcomes of SNPs that illustrate pathogenicity. The importance of deleterious nsSNPs that affect a potential ...
and Web of Science (https://login.webofknowledge.com/), a total of 68 GWAS and CGAS were included for analysis in our study. The SNVs were categorized into non-coding (regulatory) and coding (composed of non-synonymous and synonymous) SNVs using the dbSNP database...
The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree. Copyright ...
(A) Serial application of GROFFFY; allele frequency filters based on frequencies in the 1000 Genomes (1000g)31 or gnomAD32; synonymous (Synon) filter, and white-listed filter (see material and methods and Tables S1, S2, S3, and S4 for further details). Where error bars are not visible ...
rs4988235 has several other synonymous HGVS names in dbSNP, using a range of exemplar sequences. Some of these names are based on subchromosomal assemblies, and some are based on sequences assembled from transcripts. NG_008104.2:g.9094C>T contains a 'locus reference gene', LRG_338, construct...
Synonymous mutations were counted to reduce sampling noise, while non-coding alterations, germline alterations occurring with two or more counts in the ExAC database, alterations that were predicted to be germline by the somatic-germline zygosity algorithm, and any known germline alterations in dbSNP ...
Genome-wide association studies (GWAS) have produced thousands of credible intervals of SNVs, which are frequently assumed to tag one or a few causal variants that influence the trait. In order to discover the underlying bona fide causal SNVs, researchers are increasingly adopting in silico ...
37 Bromberg Y, Rost B: SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 2007; 35: 3823–3835. 38 Thomas PD: PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 2003; 13: 2129–2141. 39 Oke M, Carter L, Johnson K ...