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.

3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing

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.

Code, data and results associated with the "Rare diseases cell-typing" project.

UPWARD: Uniting People Working Against Rare Diseases

Biomedical knowledge graph & graph neural network models for drug repurposing.

Reference-free FASTQ filter for rare germline and somatic variants

A collection of scripts for filtering annotated variant call format files