GitHub topics: pathogenicity
laurensvdwiel/metadome
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
Language: Python - Size: 2.46 MB - Last synced at: 7 days ago - Pushed at: 8 days ago - Stars: 9 - Forks: 2
vicsanga/Postre
POSTRE: Prediction Of STRuctural variant Effects
Language: R - Size: 136 MB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 21 - Forks: 1
Sajib-006/Patho-LM
[MLCB 2024] [ICML AI4Science 2024] PathoLM: Identifying pathogenicity from the DNA sequence through the Genome Foundation Model
Language: Python - Size: 0 Bytes - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0
ding-lab/CharGer
Characterization of Germline variants
Language: Python - Size: 16.8 MB - Last synced at: about 15 hours ago - Pushed at: about 3 years ago - Stars: 98 - Forks: 37
jakob-he/TADA
TAD-aware annotation of CNVs
Language: Python - Size: 196 MB - Last synced at: 2 months ago - Pushed at: about 3 years ago - Stars: 7 - Forks: 2
sigven/cpsr
Cancer Predisposition Sequencing Reporter (CPSR)
Language: R - Size: 15.3 MB - Last synced at: 12 months ago - Pushed at: 12 months ago - Stars: 53 - Forks: 12
Shen-Lab/WSR-PredictPofPathogenicity
A weakly supervised regression approach to directly predict the probability of pathogenicity based on categorized pathogenicity classes
Language: Python - Size: 856 KB - Last synced at: about 1 year ago - Pushed at: almost 6 years ago - Stars: 4 - Forks: 5
Genotek/ClassifyCNV
ClassifyCNV: a tool for clinical annotation of copy-number variants
Language: Python - Size: 26.1 MB - Last synced at: over 1 year ago - Pushed at: almost 2 years ago - Stars: 54 - Forks: 13
Zhihan-Leo-Liu/DosaCNV
Deep multiple instance learning model for predicting deletion pathogenicity and gene haploinsufficiency.
Language: R - Size: 24.7 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0
aleimba/ecoli_VF_collection
Collection of 1069 Escherichia coli virulence factors
Size: 270 KB - Last synced at: almost 2 years ago - Pushed at: over 8 years ago - Stars: 2 - Forks: 1
JakubBartoszewicz/DeePaC
Predicting pathogenic potentials of short DNA reads with reverse-complement deep neural networks.
Language: Jupyter Notebook - Size: 163 MB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 3 - Forks: 2
