Mutalyzer

[…] showing sequence identity between wild and mutated sequences (figure 3)., the genomic reference of the polh gene ng_011763.1 was used to annotate the deletion according to the hgvs version 2.0 (mutalyzer 2.0.beta-26)., in this study, we investigated sixteen patients with late onset of xp features. these patients belong to ten consanguineous families from different tunisian geographic areas […]

[…] description was also observed in some articles. under such circumstance, we used ucsc blat tool [12] to check and correct the discordance. during the whole data annotation process, we utilized mutalyzer 2.0 β-8 [13] to check all collected data and complete information of each mutation when some information is not available from articles. mutalyzer is a tool primarily designed to check […]

[…] annotation: http://snp.gs.washington.edu/seattleseqannotation131/;, 1000 genomes: http://www.1000genomes.org/;, alamut: http://www.interactive-biosoftware.com/;, mutalyzer 2.0.beta-21: https://mutalyzer.nl/;, ncbi: http://www.ncbi.nlm.nih.gov/, genecards: http://www.genecards.org/, ensemble: http://www.ensembl.org/homo_sapiens/gene/, fshd genotyping and methylation analysis protocols: […]