egenomics
Equally fascinated by the potential of computers to solve problems and by the diversity and complexity of life.
Hospital Clínic de BarcelonaBarcelona
egenomics's Stars
microsoft/lida
Automatic Generation of Visualizations and Infographics using Large Language Models
bactopia/bactopia
A flexible pipeline for complete analysis of bacterial genomes
brentp/somalier
fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"
FRED-2/OptiType
Precision HLA typing from next-generation sequencing data
broadinstitute/seqr
web-based analysis tool for rare disease genomics
pha4ge/hAMRonization
Parse multiple Antimicrobial Resistance Analysis Reports into a common data structure
nf-core/viralrecon
Assembly and intrahost/low-frequency variant calling for viral samples
Mykrobe-tools/mykrobe
Antibiotic resistance prediction in minutes
smithlabcode/falco
A C++ drop-in replacement of FastQC to assess the quality of sequence read data
MDU-PHL/abritamr
A pipeline for running AMRfinderPlus and collating results into functional classes
vplagnol/ExomeDepth
ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
nf-core/hlatyping
Precision HLA typing from next-generation sequencing data
iqbal-lab-org/clockwork
CRyPTIC data processing pipelines
hw538/cfDNAPro
cfDNAPro specializes in standardized and robust cfDNA fragmentomic analysis
Gabaldonlab/jloh
A tool to extract LOH blocks from VCF, BAM and FASTA data
pha4ge/hAMRonization_workflow
Harmonization of AMR predictor tool outputs
ssadedin/ximmer
Ximmer is a system for CNV calling on exome and targeted genomic sequencing
nf-core/phaseimpute
vicruiser/3Dmapper
Map genetic variants and protein positions to protein interfaces in 3D
nch-igm/snvstory
Rapid and accurate ancestry inference using SNVs.
GavinHaLab/ichorCNA
Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.
mbhall88/tbpore
Mycobacterium tuberculosis genomic analysis from Nanopore sequencing data
nf-core/pathogensurveillance
Surveillance of pathogens using population genomics and sequencing
INSaFLU/docker
Easy installation for INSaFLU made by docker
ForomePlatform/anfisa
Variant Analysis and Curation Tool (Back-end, REST API and Internal Client)
GavinHaLab/ichorCNA_offtarget
Estimating tumor fraction by exploiting the off-target reads from targeted DNA sequencing.
MicroBinfie/ESCMID-MGE-2022
nf-core/phyloplace
nf-core/phyloplace is a bioinformatics best-practice analysis pipeline that performs phylogenetic placement with EPA-NG.
mouliere-lab/ITSFASTR
A bioinformatic pipeline for ultra-fast analysis of cfDNA using Oxford Nanopore Technologies sequencing.
LMG9509/TFM
Evaluación del impacto del proceso de rarefacción en la detección de comunidades microbianas en datos de amplicones ARNr 16S