Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.
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Updated
Nov 30, 2022 - Python
Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.
Rare disease identification from free-text clinical notes with ontologies and weak supervision
Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
Package to serve public and freely-available data from rare disease patients.
RDKG-115: Assisting drug repurposing and discovery for rare diseases by trimodal knowledge graph embedding
Statistical models for finding de novo recurrence and compound heterozygosity across rare disease patient cohorts
Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
Repository to develop layperson descriptions of rare diseases
Disease-causing variant recommendation system for Rare diseases
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