Results for "Allele"
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InfoGenomeR: Integrative reconstruction of cancer genome karyotypes
...oint graph to model the connectivity among genomic segments at the genome-wide scale. InfoGenomeR integrates cancer purity and ploidy, total CNAs, allele-specific CNAs, and haplotype...1112 days ago
ConPADE: Genome Assembly Ploidy Estimation from Next-Generation Sequencing Data
ConPADE (Contig Ploidy and Allele Dosage Estimation), a probabilistic method tha...oidy of any given contig/scaffold based on its allele proportions. In the process,...cability of the method for variant calling and allele dosage estimation. Results fo...2642 days ago
snakepipes: A toolkit based on snakemake and python for analysis of NGS data
...he analysis of NGS data. DNA-mapping* ChIP-seq* RNA-seq* ATAC-seq* scRNA-seq Hi-C Whole Genome Bisulfite Seq/WGBS (*Also available in "allele-specific" mode) snakePipes c...1817 days ago
- ...reduce false positive SNPs, Heap determines genotypes and calls SNPs at each site except for sites at the both end of reads or containing a minor allele supported by only one read. P...
2223 days ago
Ensembl Variation - Calculated variant consequences
...pts. We then use a rule-based approach to predict the effects that each allele of the variant may have on ea...ogy (SO), that can be currently assigned to each combination of an allele and a transcript is shown in...2080 days ago
MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants
MALVA is able to genotype multi-allelic SNPs and indels without mapping reads MALVA calls correctly more indels than the most widely adopted genotyping pipelines Mapp...1574 days ago
mutatrix: a population genome simulator which generates simulated genomes.
genome simulation across a population with zeta-distributed allele frequency, snps, insertions, deletions, and multi-nucleotide polymorphisms More at https://github.com/ekg/mutatrix ./mutatrix -S sample -P test/ -p 2 -n 10 reference.fasta1574 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 t...1416 days ago
