rare-disease topic

genetic variant expressions, annotation, and filtering for great good.

brentp

FRASER - Find RAre Splicing Events in RNA-seq

gagneurlab

Rare disease identification from free-text clinical notes with ontologies and weak supervision

acadTags

Call and score variants from WGS/WES of rare disease patients.

nf-core

Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.

Oshlack

Accompanying analysis code for the FRASER manuscript

gagneurlab

Detecting Aberrant Splicing Events from RNA-sequencing data

dzhang32

SHEPHERD: Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

mims-harvard

Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

monarch-initiative

(WIP) best-practices workflow for rare disease

brentp