A combined deep learning tool for automated recognition of human phenotype ontology

PyPaperBot is a Python tool for downloading scientific papers using Google Scholar, Crossref, SciHub, and SciDB.

High accuracy RAG for answering questions from scientific documents with citations

Pedigree drawing with ease

Uses publisher APIs to programmatically retrieve scientific journal articles for text mining.

StrVCTVRE, a structural variant classifier for exonic deletions and duplications

AutoGPT is the vision of accessible AI for everyone, to use and to build on. Our mission is to provide the tools, so that you can focus on what matters.

A curated list of monogenic epilepsy genes

LlamaIndex is the leading framework for building LLM-powered agents over your data.

Submit slurm sbatch jobs without a script

A Tool to Annotate and Prioritize Exome Variants

Structural variant VCF annotation, duplicate removal and comparison

using all the bits for echt rapid variant annotation and filtering

Animation engine for explanatory math videos

Official repository for the paper "Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning". Joint collaboration between the Marks lab and the OATML group.

Research pipeline for exploring clinically relevant genomic variants

Structural variant detection and association testing

DeepConsensus uses gap-aware sequence transformers to correct errors in Pacific Biosciences (PacBio) Circular Consensus Sequencing (CCS) data.

GRIDSS: the Genomic Rearrangement IDentification Software Suite

run multiple sv evalution tools

Flexible, uncertainty-aware variant calling with parameter free filtration via FDR control.

Cancer Predisposition Sequencing Reporter (CPSR)

(WIP) best-practices workflow for rare disease

Deep learning-based structural variant filtering method

Script for phasing DNMs

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

Jitterbug is a bioinformatic software that predicts insertion sites of transposable elements in a sample sequenced by short paired-end reads with respect to an assembled reference.

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