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China’s BGI says it can sequence a genome for just $100
By Neel 1734 days ago Comments (6)China’s BGI says it can sequence a genome for just $100RefKA: A fast and efficient long-read genome assembly approach for large and complex genomes
By Rahul Nayak 1672 days agogithub.com - RefKA, a reference-based approach for long read genome assembly. This approach relies on breaking up a closely related reference genome into bins, aligning k-mers unique to each bin with PacBio reads, and then assembling each bin in parallel...merqury: Evaluate genome assemblies with k-mers
By Jit 1608 days agogithub.com - Often, genome assembly projects have illumina whole genome sequencing reads available for the assembled individual. The k-mer spectrum of this read set can be used for independently evaluating assembly quality without the need of a high quality...HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly...
By Jit 1493 days agogithub.com - Despite marked recent improvements in long-read sequencing technology, the assembly of diploid genomes remains a difficult task. A major obstacle is distinguishing between alternative contigs that represent highly heterozygous regions. If primary...InfoGenomeR: Integrative reconstruction of cancer genome karyotypes
By Jit 1303 days agogithub.com - InfoGenomeR is the Integrative Framework for Genome Reconstruction that uses a breakpoint graph to model the connectivity among genomic segments at the genome-wide scale. InfoGenomeR integrates cancer purity and ploidy, total CNAs, allele-specific...Understanding kmer !
By BioStar 1198 days agobioinfologics.github.io - What is a k-mer anyway? A k-mer is just a sequence of k characters in a string (or nucleotides in a DNA sequence). Now, it is important to remember that to get all k-mers from a sequence you need to get...maftools
By Surabhi Chaudhary 1077 days agogithub.com - With advances in Cancer Genomics, Mutation Annotation Format (MAF) is being widely accepted and used to store somatic variants detected. The Cancer Genome Atlas Project has sequenced over 30 different cancers with sample size of each cancer type...
Short-read assembly using Spades !
Last updated 1031 days ago by Abhimanyu Singh Comments (2)If we only had Illumina reads, we could also assemble these using the tool Spades. You can try this here, or try it later on your own data. Get data We will use the same Illumina data as we used above: illumina_R1.fastq.gz: the Illumina...Smudgeplot: Inference of ploidy and heterozygosity structure using whole genome sequencing data
By Neel 1007 days agogithub.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 +...GenomeQC: a quality assessment tool for genome assemblies and gene structure annotations
By Neel 924 days agogithub.com - The GenomeQC web application is implemented in R/Shiny version 1.5.9 and Python 3.6 and is freely available at https://genomeqc.maizegdb.org/ under the GPL license. All source code and a containerized version of the GenomeQC pipeline is...
