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Documentation for the ANNOVAR software
239 378
A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
Python 190 93
135 95
Variant calling tool for long-read sequencing data
Python 105 8
DeepMod: a deep-learning tool for genomic-scale, strand-sensitive and single-nucleotide based detection of DNA modifications
Python 101 35
Copy number vaiation detection from SNP arrays
C 90 56
An alignment-based, generalized structural variant caller for long-read sequencing/mapping data
DNA 5mC methylation detection from Dorado or Guppy basecalled Oxford Nanopore reads
Clinical interpretation of somatic mutations in cancer
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Software for detecting gene fusions and exon-skippings from long read sequencing
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