genetic variant expressions, annotation, and filtering for great good.
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Updated
May 28, 2024 - Nim
genetic variant expressions, annotation, and filtering for great good.
Call and score variants from WGS/WES of rare disease patients.
(WIP) best-practices workflow for rare disease
SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
FRASER - Find RAre Splicing Events in RNA-seq
Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.
Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
Rare disease identification from free-text clinical notes with ontologies and weak supervision
Accompanying analysis code for the FRASER manuscript
Detecting Aberrant Splicing Events from RNA-sequencing data
Semantic data model of the set of common data elements for rare disease registration
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.
Code, data and results associated with the "Rare diseases cell-typing" project.
3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing
Biomedical knowledge graph & graph neural network models for drug repurposing.
Reference-free FASTQ filter for rare germline and somatic variants
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"
Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
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