Results for "variants"

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  • Structural variants PPT

    1000 Genomes data tutorial at ASHG Structural variants presentation by Jan Korbel European Molecular Biology Laboratory (EMBL) Heidelberg Genome Biology Research Unit Reference:  https://www.genome.gov/pages/research/der/1000genomesprojecttutorials/structuralvariants-jankorbel.pdf

    2782 days ago

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  • Genome Assembly Tools and Software - PART2 !!

    ...0 – Detection and Assembly of Insertion VariantsMindTheGap is a software...forms detection and assembly of DNA insertion variants in NGS read datasets with res...oftware uses a simple error correction, viral variants assembling based on maximum-b...

    2670 days ago

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  • Scalpel

    ...richment for indels in children affected by autism, compared with their unaffected siblings, a pattern that persisted even after excluding common variants.

    3531 days ago

  • Drawback of Exome Sequencing

    ...ome method was missing more than 40 percent of disease-causing genetic variants, and we found that the worst-performing method missed more than 90 percent of such variants in four of the 56 genes," he...

    3610 days ago

  • +8 more News

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  • Downloading GATK !

    ...t analyze read coverage to detect copy number variants. AnnotateIntervals...(BETA Tool) Calls copy-number variants in germline samples given the...form variant calling and genotyping for short variants (SNPs, SNVs and Indels)...

    2060 days ago

  • Samtools commands for bioinformatician !

    ...files samtools index sal_sej_sorted.bam.bam ### identifying genome variants (mpileup command) # -g : out...calling snp and indels # -c : find snp # -v : output only potential variants bcftools view -c -v sal_vars...

    1587 days ago

  • +8 more Bio-Scripts

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  • Genome Hackers

    Genome Hackers

    ...ou even realising. By taking a glass from which you have drunk, a "genome hacker" could obtain a comprehensive scan of your genome, revealing DNA variants that help determine your susc...

    3937 days ago

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  • Scalpel

    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

    3531 days ago

  • https://github.com/chapmanb/bcbio-nextgen #NGS #SNP #Variants #RNASeq

    Tags: NGS, SNP, Variants, RNASeq

    3588 days ago

  • +22 more Tags

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