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Another Gtf/Gff Analysis Toolkit https://nbisweden.github.io/AGAT/
Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms
A collection of sequencing protocols and bioinformatic resources for SARS-CoV-2 sequencing.
LTR_retriever is a highly accurate and sensitive program for identification of LTR retrotransposons; The LTR Assembly Index (LAI) is also included in this package.
ALLHiC: phasing and scaffolding polyploid genomes based on Hi-C data
Learning the Sequence Alignment/Map format
Tools for the analysis of structural variation in genomes
Somatic copy number analysis using WGS paired end wholegenome sequencing
Breakpoints via assembly - Identifies breaks and attempts to assemble rearrangements in whole genome sequencing data.
Filter SAM file for soft and hard clipped alignments
NovoGraph: building whole genome graphs from long-read-based de novo assemblies
Benchmark datasets for WGS analysis
Create a pseudohaploid assembly from a partially resolved diploid assembly
Cancer Genome Project Insertion/Deletion detection pipeline based around Pindel
Assembly based core genome SNP alignments for bacteria
Using k-mers to call HLA alleles in RNA sequencing data
Shimmer is a software package for the characterization of genetic differences between two very similar samples, e.g., a tumor sample and its matched normal tissue sample.
Program for simulating non-reversible DNA sequence evolution on a fixed bifurcating tree using trinucleotide context