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Jun 21, 2024 · The VCF files obtained after exome sequencing were uploaded to the Franklin program (https://franklin.genoox.com) for annotation. The data were filtered to prioritize homozygous variants with ...
6 days ago · Classification of variants according to the ACMG criteria were performed with the Franklin tool by genoox [https://franklin.genoox.com, accessed on October 2023]. It includes several prediction tools assessing functional coding variants (Revel, AlphaMissense, Eve, Varity, MUT Assesor, SIFT, Polyphen2, MutationTaster, FATHMM, DANN, MetaLR, PrimateAI, BayesDel), splicing altering variants (SpliceAI), conservation (GERP), finally ensembled into an “Aggregated Prediction score” from 0 to 1 ...
3 days ago · In addition, reputable genomic databases were consulted to obtain more information on variant classification, such as Franklin by Genoox (https: ...
Jun 17, 2024 · Franklin by Genoox Study: The Canadian Open Genetics Repository (COGR) Accession: SCV001550769.2 First in ClinVar: Apr 13, 2021 Last updated: Nov 29, 2022
Jun 10, 2024 · The bioinformatics pipeline from FASTQ files to the variant analysis was performed suing the Franklin analysis platform (Genoox, Tel Aviv, Israel). The analysis was performed as follows: FASTQ files aligned to hg19 were transformed to BAM files using BWA. Duplicate reads were marked and filtered in the process.
Jun 25, 2024 · The ACMG criteria assigned by Franklin are PVS1 (Null variant in a gene where loss of function is a known mechanism of disease), PM3 (For recessive disorders, detected in trans with a pathogenic variant, or in a homozygous or compound heterozygous state in affected cases), and PM2 (low frequency in gnomAD population databases).
Jun 12, 2024 · Genox’s Recycling Equipment Attract much Attention at the Argenplas 2024. On June 4 to 7, 2024, the four-day Argenplas 2024 was held in Buenos Aires, Argentina. Genox showcased Single Shaft Shredder V600 and Shredder-granulator Combo GCV600 at the exhibition, attracting a lot of visitors for inquiry on site. Argenplas is held every two years ...
