Results for "Exome"

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  • Diagnostic Clinical Genome and Exome Sequencing! http://www.nejm.org/doi/pdf/10.1056/NEJMra1312543 #CGES #Omics #Exome

    3598 days ago

  • http://sourceforge.net/projects/atlas2/ #SNP #Exome #Indels

    3485 days ago

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  • Scalpel

    ...aller and SOAPindel in test runs on both simulated and real whole human exomes. Like other indel callers,...ekend in Nature Methods, compares Scalpel's performance on a live whole exome against HaplotypeCaller and S...

    3538 days ago

  • Drawback of Exome Sequencing

    ...Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different...cally relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more than...

    3617 days ago

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  • Bourque Lab

    ...ational methods and resources for the functional annotation of genomes with a special emphasis on sequencing-based assays (e.g. ChIP-seq, RNA-Seq, exome- and whole-genome sequencing,...

    1929 days ago

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  • SeqMule: Automated human exome/genome variants detection

    SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file. SeqMule also has some built-in...

    Tags: Bioinformatics, Analysis, Assembly, Genome, SeqMule, Exome, Structure, Variation

    2607 days ago

  • mosdepth: fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

    mosdepth can output: per-base depth about 2x as fast samtools depth--about 25 minutes of CPU time for a 30X genome.mean per-window depth given a window size--as would be used for CNV calling.the mean per-region given a BED file of regions.a distribution of proportion of bases covered at or above...

    Tags: mosdepth, fast, BAM, CRAM, depth, calculation, WGS, exome, target, sequencing

    1623 days ago

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