Results for "variants"
Tags
A team from Cold Spring Harbor Laboratory has released an algorithm, called Scalpel, for finding insertions and deletions in next generation sequencing data sets. Scalpel, which is open source and available for download on SourceForge, outperformed the popular tools GATK HaplotypeCaller and ...Tags: Bioinformatics, Scalpel, Genetic, Variants, Discovery, Tool
3537 days ago
What are the best known workflow or tutorial for SNP calling?
Tags: SNP, Workflows, Tutorial, Single Nucleotide Polymorphisms, SNPs, Variants
3573 days ago
- DISCOVAR is a new variant caller and DISCOVAR de novo a new genome assembler, both designed for state-of-the-art data. Their inputs are chosen to optimize quality while keeping costs low. Currently it takes as input Illumina reads of length 250 or longer — produced on MiSeq or HiSeq 2500 &m...
Tags: Bioinformatics, NGS, Assembly, DISCOVAR, Variants, BroadInstitute
2929 days ago
Tools to Predict the Impact of Missense Variants !
Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of in silico tools have been employed for the task of pathogenicity prediction, including PolyPhen‐2, SIFT,...Tags: Evaluation, Tools, Predict, Missense, Variants, Hindered, Circularity
2194 days ago
- Call sviper ~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants This will output a polished_variants.vcf file, that contains all the refined variants. Sometimes it is helpful to look at the polished sequence, e.g. with the IGV browser. In...
Tags: SViper, Swipe, Structural, Variants, ONT, PacBio, reads, Illumina
1587 days ago
SVEngine: Allele Specific and Haplotype Aware Structural Variants Simulator
SVEngine (Structural Variants Engine) SVEngine is a multi-purpose and self-contained simulator for whole genome scale spike-in of thousands of SV events of various types in both single-sample and matched sample scenarios. SVEngine takes as input reference contigs in FASTA files, variant meta ...Tags: SVEngine, Allele, Haplotype, Aware, Structural, Variants, Simulator, Simulation
1392 days ago
Resolving the complexity of the human genome using single-molecule sequencing
The human genome is arguably the most complete mammalian reference assembly yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. The results in this paper https://www.genomeweb.com/sequencing/team-uses-single-mo...Tags: variants, human reference genome, structural and sequence variation, genome assembly
3211 days ago
