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kgev-neo4j

linkedsv

liqa

Long-read Isoform Quantification and Analysis

lncscore

A python package for the identification of lncRNA from the assembled novel transcripts

lncscore-java

Prediction of lncRNA from RNA-Seq data

longgf

A computational algorithm and software tool for fast and accurate detection of gene fusion by long-read transcriptome sequencing

longreadsum

mutformer

A transformer model to predict pathogenic mutations

nanobinner

nanocaller

Variant calling tool for long-read sequencing data

nanomod

NanoMod: a computational tool to detect DNA modifications using Nanopore long-read sequencing data

nanorepeat

NanoRepeat: fast and accurate analysis of Short Tandem Repeats (STRs) from Oxford Nanopore sequencing data

penncnv

Copy number vaiation detection from SNP arrays

penncnv-seq

Adaption of the original PennCNV algorithm for whole-genome sequencing data

penncnv2

A software package for detection of copy number alterations from tumor samples

phen2gene

Phenotype driven gene prioritization for HPO

phen2gene2

Phen2Gene improved and optimized for pipelines

phencards

Development of phencards.org web server for one stop shop of phenotype information

phencards-dbrelease

A db-release of PhenCards to coincide with the release of the paper

phenogpt

phenolyzer

phenotype-based prioritization of candidate genes for human diseases

quantitativegenomics2022

repeathmm

a hidden Markov model to infer simple repeats from genome sequences

seqapp

A R package to analyze double-stranded DNA breaks from sequence data

seqmule

Automated human exome/genome variants detection from FASTQ files

sgan

SGAN (Oncogenicity score prediction using Semi-supervised Generative Adversarial Networks)

sparkinternals

Notes talking about the design and implementation of Apache Spark

svgen

Simulator for structural variants in various types of next-generation sequencing data

termviewer

Repository for NLP project filtering medical notes

uniline

Assembly-based analysis