Pinned Repositories
wf-human-variation
Sniffles
Structural variation caller using third generation sequencing
Clair3
Clair3 - Symphonizing pileup and full-alignment for high-performance long-read variant calling
ClairS-TO
ClairS-TO - a deep-learning method for tumor-only somatic variant calling
minimap2
A versatile pairwise aligner for genomic and spliced nucleotide sequences
dorado
Oxford Nanopore's Basecaller
DeepMosaic
DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
CI-SpliceAI__Annotation
Annotation of splice disruptions using CI-SpliceAI
SplitFusion
SplitFusion is a clinical-grade fusion detection algorithm with high research potentials.
ymcki's Repositories
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