Results for "chromosome"

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  • COSMIC

    The accurate description and annotation of structural variants can be complex.  This is due to the different resolution that variants are reported from traditional cytogenetic coordinates down to the actual base pair positions. Furthermore, multiple rearrangements in a single area ...

    Tags: Bioinformatics, COSMIC, Chromosome, Cancer, Rearrangement, Breakpoints

    2754 days ago

  • GeneBreak: a tool to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach

    Development of cancer is driven by somatic alterations, including numerical and structural chromosomal aberrations. Currently, several computational methods are available and are widely applied to detect numerical copy number aberrations (CNAs) of chromosomal segments in tumor genomes. However, t...

    Tags: Bioinformatics, GeneBreak, Chromosome, Genome, NGS, Breakpoints, Genes

    2135 days ago

  • Beagle

    Beagle is a software package that performs genotype calling, genotype phasing, imputation of ungenotyped markers, and identity-by-descent segment detection. Beagle version 4.1 has a more accurate genotype phasing algorithm and a very fast and accurate genotype imputation algorithm. Version 4.1 a...

    Tags: Bioinformatics, Beagle, Chromosome, NGS

    2728 days ago

  • Comparative genomics educational material and papers bookmarks

    Alignment of the porcine genome against seven other mammalian genomes (Supplementary Information) identified homologous synteny blocks (HSBs). Using porcine HSBs and stringent filtering criteria, 192 pig-specific evolutionary breakpoint regions (EBRs) were located. The number of porcine EBRs is c...

    Tags: Bioinformatics, Comparative genomics, Genomics, Chromosome, Synteny, Evolution

    2715 days ago

  • Method in Comparative genomics !!

    We present methods for the automatic determination of genome correspondence. The algorithms enabled the automatic identification of orthologs for more than 90% of genes and intergenic regions across the four species despite the large number of duplicated genes in the yeast genome. The remaining a...

    Tags: Bioinformatics, Comparative genomics, Genomics, Chromosome, Analysis, Method, Evolution

    2715 days ago

  • Structural variation: the hidden genomic treasure

    Genome re-sequencing projects have revealed substantial amounts of genetic variation between individuals extending beyond single nucleotide polymorphisms (SNPs) and short indels. Structural Variations (SVs) and Copy Number Variations (CNVs) are a major source of genomic variation. However, compar...

    Tags: Bioinformatics, Chromosome, Genome, NGS, Structure Variation, Deletions, Insertions, Duplications, Inversions, Translocations

    2684 days ago

  • LAST

    LAST can: Handle big sequence data, e.g: Compare two vertebrate genomes Align billions of DNA reads to a genome Indicate the reliability of each aligned column. Use sequence quality data properly. Compare DNA to proteins, with frameshifts. Compare PSSMs to ...

    Tags: Bioinformatics, Chromosome, Genome, NGS, Align, Compare, Similarity

    2675 days ago

  • pyScaf

    pyScaf orders contigs from genome assemblies utilising several types of information: paired-end (PE) and/or mate-pair libraries (NGS-based mode) long reads (NGS-based mode) synteny to the genome of some related species (reference-based mode) Scaffolding  In reference-based mode, pyS...

    Tags: Bioinformatics, Chromosome, Genome, NGS, Align, Compare, Similarity, Scaffolding

    2675 days ago

  • fineSTRUCTURE v2 & GLOBETROTTER

    Software available at this site FineSTRUCTURE version 2, a pipeline for running ChromoPainter and FineSTRUCTURE for population inference. A GUI is available for interpretation. Download from the Downloads page. FineSTRUCTURE R scripts, a facility for exploring the results when the GUI is un...

    Tags: Bioinformatics, Chromosome, Paint, R, Script

    2619 days ago

  • Ideoplot

    Simple ideogram plotting and annotation in R. Basic usage: Rscript Ideoplot.R --heatmap hm.bed --annotate annotations.bed --out ideogram.pdf -or- Rscript Ideoplot.R --annotate annotations.bed Options --ideobed, i A bed file of reference contig lengths/chromosome names --heatmap, -h ...

    Tags: Bioinformatics, Chromosome, Paint, R, Script

    2619 days ago