Results for "Exome"

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  • Drawback of Exome Sequencing

    Dr Eric Londin, Assistant Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more...

    Tags: Exome, WGS, Sequencing, Clinical, omics, diagnostics

    1089 days ago

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

    Tags: CGES, Omics, Exome

    1070 days ago

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

    Tags: SNP, Exome, Indels

    958 days ago

  • 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

    80 days ago