@mapk14#
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Updated
Apr 3, 2017
@mapk14#
eXome Hidden Markov model (XHMM) - Copy Number Variants (CNVs) from Whole Exome Sequencing Data
Pipeline for copy number variant calling from Whole Exome sequencing data using CODEX
Copy number estimation of highly duplicated sequences
Epicopy R package for CNV identification from methylation microarrays.
Galaxy Tool Shed repositories maintained and developed by the Morin Lab.
CONICS: COpy-Number analysis In single-Cell RNA-Sequencing
Probabilistic inference of somatic copy number alterations using repeat DNA (FAST-SeqS)
Annotation structure variant
VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data. For algorithmic details, see Pugh TJ et al. Genet Med. 2016 Jul;18(7):712-9.
🎉 CNVetti – robust, efficient, and versatile clinical CNV calling from HTS data
My Solution for PrecisionFDA Brain Cancer Predictive Modeling and Biomarker Discovery Challenge
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole genome sequencing data
CNprep — Pre-process DNA Copy Number (CN) Data for Detection of CN Events
Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec
Tool for calling tumour-specific somatic copy number alterations from targeted sequencing data. This tool is based on the germline copy number variant caller published by Pugh TJ et al. Genet Med. 2016 Jul;18(7):712-9.
Whole genome sequence simulation of DUF1220 domains and testing of alignment strategies
Analysis of subclonal copy number alterations (CNA) and loss of heterozygosity (LOH) in cancer
NCutYX is an R package for clustering different types of genomic data.
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