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Tag: polyphen2
Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma
Our approach for identifying potential immunosuppressive CH mutations in TII consisted of four stages as shown in Fig. 2. (1) We selected protein altering mutations, which are more likely to be pathogenic than non-coding and synonymous mutations. (2) Clonally expanded somatic mutations in TII were identified based on variant allele fraction…
Generation of polyphen2 & SFT scores for structural variants.
VEP: Generation of polyphen2 & SFT scores for structural variants. 0 Hello, has anybody generated polyphen 2 scores for structural variants reported by Manta using VEP. I have ran VEP but do not have any scores reported and there is no error in my out put report. Of note I…
Chinese population with hailey-hailey disease
Introduction Hailey–Hailey disease (HHD; Online Mendelian Inheritance in Man no. 169600), also known as familial benign chronic pemphigus, is a rare autosomal dominant inherited blistering dermatosis. It is characterized by recurrent blisters, erythema, and vesicles predominantly located in the neck, axilla, groin, and breast folds.1 Histopathologically, HHD is characterized by…
Towards an integrated resource for the study of population and disease associated variability of the human mitochondrial genome | Diroma
Motivations. Thanks to the development of valid DNA sequencing technologies and statistical methods of analysis, nowadays we have a great amount of human mtDNA data. The mitochondrion genome presents a high rate of variability: the turning point of a polymorphism into a mutation is linked to heteroplasmy. A variability analysis…
Polyphen2, Sift, etc filter-based annotation with annovar
use dbnsfp42a, which includes sift, polyphen and dozens of other scores. On Wed, Aug 25, 2021 at 8:32 PM BeeSam-code ***@wrote: Hi, Could someone help me figure out the correct command for filter-based annotation using polyphen2 and sift? Without the ljb23 files, I’m not sure how to approach this. —…