Blog
September 24, 2022
Tricks make life easier
Bioinformatics
Notes
Variant calling related
I. Single nucleotide variants and short insertions/deletions (SNVs and INDELs)
GATK
- GATK Data Pre-processing
- GATK Somatic Short Variant Discovery
- GATK Somatic copy number variant discovery (CNVs)
- Run GATK older version by docker images
From fastqs to bam
Filter bam
Other
- Different variant callers
- GEM: Reference genome mappability
- freebayes: Bayesian genetic variant detector
- SomaticSniper: SNVs and short Indel caller
- Strelka: SNVs and short Indel caller
- RTG Tools: compare vcf
- Control_FreeC: calculate tumor purity
- readtagger: tag reads using bams
- SomaticSeq: combine multiple SNV calls
II. Structural variants (SV)
Tools
- LUMPY: SV caller
- DELLY: SV caller
- svtools: comprehensive utilities for SV
- novoBreak: a structural variant breakpoint detection tool
- svParser: a tool to deal with SV output vcf
- Manta: SV caller
- GRIDSS2: SV caller
- SURVIVOR: merge SVs
- gGnome: post-visualization tool for SV
III. Copy number variation (CNV)
Tools
Other data type
Long-read DNA
16s RNA
Protein
Transposable elements (TEs)
Toolbox
Programming
Linux
Python
Java
Format
Tools
Statistics
Theory
- Detailed Balance Condition
- Stochastic Processes
- Stochastic HW2 Graph
- Gibss sampler
- Kingman’s coalescent
Tools
Research related papers
- Statistical phylogenetics study resources
- 2020Ji - Gradients Do Grow on Trees: A Linear-Time O(N)-Dimensional Gradient for Statistical Phylogenetics
- 2023Fourment - Automatic differentiation is no panacea for phylogenetic gradient computation