github.com - This tool extracts heterozygous kmer pairs from kmer count databases and performs gymnastics with them. We are able to disentangle genome structure by comparing the sum of kmer pair coverages (CovA + CovB) to their relative coverage (CovB / (CovA +...
cpansearch.perl.org - This is a collection of libraries and high-quality end-user scripts for bioinformatic analysis, including working with gene annotation, collecting data scores from a variety of modern file formats, and conversion between file formats. The...
github.com - TMAP - torrent mapping alignment program General Notes
TMAP is a fast and accurate alignment software for short and long nucleotide sequences produced by next-generation sequencing technologies.
The latest TMAP is unsupported. To use a...
github.com - This repository contains the scripts and pipeline that reproduces the results of the HCMV benchmarking study. In this study we evaluated genome assemblers and variant callers on 10 in vitro generated, mixed strain HCMV sequence samples, each...
github.com - VcfR is an R package intended to allow easy manipulation and visualization of variant call format (VCF) data. Functions are provided to rapidly read from and write to VCF files. Once VCF data is read into R a parser function extracts matrices from...
github.com - Structural variant comparison tool for VCFs
Given benchmark and comparsion sets of SVs, calculate the recall, precision, and f-measure.
Spiral Genetics
Motivation
github.com - Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data
AfterQC can simply go through all fastq files in a folder and then output three folders: good, bad and QC folders, which contains good reads, bad reads and the QC...
www.today.com - “What we really don’t know yet is whether the predictive aspects of the genome are going to turn out to be beneficial or potentially harmful”
“As we roll out genomic medicine we are fighting against this society-wide...
biochem218.stanford.edu - Excellent article to introduce different sequencing methods along with tools for de novo assembly of sequencing reads and their relevant references.
Title: Comparison of Short Read De Novo Alignment Algorithms
Author: Nikhil Gopal