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An accurate repeat detection from Nanopore data using deep learning and image techniques
Detect and phase minor SNVs from long-read sequencing data
Tandem repeat expansion detection or genotyping from long-read alignments
DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing data.
A tool to generate long read assemblies of extra-chromosomal DNA
COMSV (Cancer Optical Mapping based Structural Variation detection) is a pipeline for SV detection based on nanochannel optical mapping data.
MethPhaser: methylation-based haplotype phasing of human genomes
Segmented HAPlotype Estimation and Imputation Tool
Read, manipulate and visualize 'Pairwise mApping Format' data in R
Merging, Annotation, Validation, and Illustration of Structural variants
An alignment-based, generalized structural variant caller for long-read sequencing/mapping data
Haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data
Filtering and profiling of next-generational sequencing data using region-specific rules
Randomly subsample sequencing reads or alignments
ClairS-TO - a deep-learning method for tumor-only somatic variant calling
SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel
Reconstruction of focal amplifications with long reads
Detecting genome structural variants with deep learning in single molecule sequencing
Somatic structural variant caller for long-read data
A tool for somatic structural variant calling using long reads
ClairS - a deep-learning method for long-read somatic small variant calling
HATCHet (Holistic Allele-specific Tumor Copy-number Heterogeneity) is an algorithm that infers allele and clone-specific CNAs and WGDs jointly across multiple tumor samples from the same patient, a…
Toolkit for calling structural variants using short or long reads