Topic: rare-disease Goto Github
Some thing interesting about rare-disease
Some thing interesting about rare-disease
rare-disease,3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing
User: 4pygmalion
Home Page: https://3billion.io/ko/main
rare-disease,Disease-causing variant recommendation system for Rare diseases
User: 4pygmalion
rare-disease,**A Work in Progress** An application to help those (people on TPN) who logs their intake and output everyday. A more robust way to access data, see trends and to make life a little easier for the ones whose lives are already complicated.
User: aarandela
rare-disease,Rare disease identification from free-text clinical notes with ontologies and weak supervision
User: acadtags
rare-disease,Monthly updated list of diagnostically relevant genes
User: berntpopp
Home Page: https://morbidgenes.org/
rare-disease,(WIP) best-practices workflow for rare disease
User: brentp
rare-disease,genetic variant expressions, annotation, and filtering for great good.
User: brentp
rare-disease,Code repository accompanying the paper by Shahin et al. (2021), Sci. Immunol.
Organization: cancerbits
rare-disease,Code repository accompanying the paper by Shahin et al. (2021), Blood Adv
Organization: cancerbits
rare-disease,Resource page about Kawasaki Disease and any helpful information we find. The focus will be on South Africa but not limited just the country. We want to create awareness and provide information, in particular to parents.
User: carike
rare-disease,Caroline Beck's lab pages
User: carolinewbeck
Home Page: https://carolinewbeck.github.io/Becklab/
rare-disease,VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.
User: cluhaowie
rare-disease,Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
User: david-a-parry
rare-disease,Analysis of rare disease patients with ATG7 mutations
User: dzhang32
Home Page: https://dzhang32.github.io/ATG7_RNAseq
rare-disease,Detecting Aberrant Splicing Events from RNA-sequencing data
User: dzhang32
Home Page: https://dzhang32.github.io/dasper/
rare-disease,Repository to explain the projects currently being developed at Foundation29.
Organization: foundation29org
Home Page: http://www.foundation29.org/
rare-disease,Package to serve public and freely-available data from rare disease patients.
Organization: foundation29org
rare-disease,FRASER - Find RAre Splicing Events in RNA-seq
Organization: gagneurlab
rare-disease,Accompanying analysis code for the FRASER manuscript
Organization: gagneurlab
Home Page: https://tinyurl.com/FRASER-paper
rare-disease,Transfer learning for uncovering the biology underlying rare disease
Organization: greenelab
rare-disease,PLD-Progression Grouper - visualize and analyze the progression of Polycystic Liver Disease (PLD) through user-inputted clinical data
Organization: halbritter-lab
rare-disease,Statistical models for finding de novo recurrence and compound heterozygosity across rare disease patient cohorts
Organization: hms-dbmi
rare-disease,Multilayer Network analysis of medulloblastoma patients
User: ikernunezca
rare-disease,Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
User: ivanwilliammd
Home Page: https://bioinformatics-ivanwilliamharsono.streamlit.app/IDeRare_Pheno
rare-disease,IdeRare Phenotype Analysis suite : Convert Indonesia SATUSEHAT terminology (SNOMED-CT, LOINC, ICD-10) to Rare Disease Terminology / Ontology (HPO, OMIM) and find the likelihood differential gene and disease explaining patient phenotype
User: ivanwilliammd
Home Page: https://pypi.org/project/iderare-pheno/
rare-disease,Repo of the 2024 Harvard Rare Disease Hackathon projects.
User: kbellonpizarro
Home Page: https://www.harvard-rarediseases.org/
rare-disease,This repository is for our 2024 manuscript, Cell-type-specific alternative splicing in the cerebral cortex of a Schinzel-Giedion Syndrome patient variant mouse model
Organization: lasseignelab
rare-disease,SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
Organization: mims-harvard
Home Page: https://zitniklab.hms.harvard.edu/projects/SHEPHERD
rare-disease,Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
Organization: monarch-initiative
rare-disease,UPWARD: Uniting People Working Against Rare Diseases
Organization: ncbi-hackathons
rare-disease,Functions for working with the Human Phenotype Ontology data
Organization: neurogenomics
Home Page: https://neurogenomics.github.io/HPOExplorer/
rare-disease,Multi-Scale Target Explorer systematically identifies, prioritises, and visualises cell-type-specific gene therapy targets across the phenome.
Organization: neurogenomics
Home Page: https://neurogenomics.github.io/MSTExplorer/
rare-disease,Code, data and results associated with the "Rare diseases cell-typing" project.
Organization: neurogenomics
rare-disease,Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
Organization: neurogenomics
rare-disease,Call and score variants from WGS/WES of rare disease patients.
Organization: nf-core
Home Page: https://nf-co.re/raredisease
rare-disease,Biomedical knowledge graph & graph neural network models for drug repurposing.
Organization: open-prophetdb
Home Page: https://open-prophetdb.github.io/biomedgps-data/
rare-disease,Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.
Organization: oshlack
rare-disease,Repository to develop layperson descriptions of rare diseases
User: pablobotas
rare-disease,Discover VNTR-associated DELs that are hard to find using Illumina reads
User: petermchale
rare-disease,This repository aims to be a central place for all data scraping and analysis related to rare diseases.
User: prirai
rare-disease,This repository contains different scripts to automate and visualize analysis performed for the "Integration of proteomics with genomics and transcriptomics increases the diagnosis rate of Mendelian disorders"
Organization: prokischlab
Home Page: https://prokischlab.github.io/omicsDiagnostics/#readme.html
rare-disease,Exploratory Research -- Clustering Similar Patients by Phenotype
User: ryan-laird
rare-disease,Retinitis Pigmentosa gene interaction network website.
User: scastlara
Home Page: https://compgen.bio.ub.edu/RPGeNet
rare-disease,A collection of scripts for filtering annotated variant call format files
Organization: scholl-lab
rare-disease,App for people diagnosed with IIH (Idiopathic Intracanial Hypertension)
User: terrimk
rare-disease,Reference-free FASTQ filter for rare germline and somatic variants
User: tobiasrausch
rare-disease,Code for the SMAScoliosis prediction model
User: tvuhan
rare-disease,Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
Organization: uab-cgds-worthey
Home Page: https://cgds-ditto.streamlit.app/
rare-disease,RDKG-115: Assisting drug repurposing and discovery for rare diseases by trimodal knowledge graph embedding
User: zhuchaoy
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