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.

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.

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

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

UPWARD: Uniting People Working Against Rare Diseases

Reference-free FASTQ filter for rare germline and somatic variants

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

A collection of scripts for filtering annotated variant call format files