Results for "Rare 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

    2787 days ago

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  • Genome Assembly Tools and Software - PART2 !!

    The genome assemblers generally take a fi...Detection and Assembly of Insertion VariantsMindTheGap is a software...ection and assembly of DNA insertion variants in NGS read datasets with res...ses a simple error correction, viral variants assembling based on maximum-b...

    2675 days ago

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  • Scalpel

    A team from Cold Spring Harbor Laboratory has released an algorithm, called Scalpel...heir unaffected siblings, a pattern that persisted even after excluding common variants.

    3536 days ago

  • Drawback of Exome Sequencing

    Dr Eric Londin, Assistant Professor, Thomas Jefferson U...ng more than 40 percent of disease-causing genetic variants, and we found that the worst-...forming method missed more than 90 percent of such variants in four of the 56 genes," he...

    3615 days ago

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  • Downloading GATK !

    jitendra@jitendra-UNLOCK-INSTALL[SNP] wge...read coverage to detect copy number variants. AnnotateIntervals...(BETA Tool) Calls copy-number variants in germline samples given the...ant calling and genotyping for short variants (SNPs, SNVs and Indels)...

    2065 days ago

  • Samtools commands for bioinformatician !

    ## count mapped reads samtools view -c -F 260 mapping_...x sal_sej_sorted.bam.bam ### identifying genome variants (mpileup command) # -g : out...els # -c : find snp # -v : output only potential variants bcftools view -c -v sal_vars...

    1592 days ago

  • +8 more Bio-Scripts

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  • Genome Hackers

    Genome Hackers

    INTIMATE secrets hidden in your DNA could be stolen without you even realising. By...genome hacker" could obtain a comprehensive scan of your genome, revealing DNA variants that help determine your susc...

    3942 days ago

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  • GenXPro GmbH

    GenXPro GMbH is service provider for entire spectrum of nucleotide-based information of any biological sample. By combining intelligent data reduction techniques and latest next generation sequencing technologies, our service portfolio provides most accurate and cost efficient solu...

    Tags: Sequencing, DNA-Seq, RNA-Seq, MACE, Epigenetics, microRNA, Chip-Seq, RAD-Seq, Methylation-Seq, transcriptomics, GBS, Gene expression, de-novo assembly, breeding, Exome Seq, Rare variants

    3626 days ago