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standalone version of mtoolbox  (SourceForge net)

 
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    SourceForge net standalone version of mtoolbox
    a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in <t>MToolBox.</t> Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow
    Standalone Version Of Mtoolbox, supplied by SourceForge net, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/standalone version of mtoolbox/product/SourceForge net
    Average 90 stars, based on 1 article reviews
    standalone version of mtoolbox - by Bioz Stars, 2026-06
    90/100 stars

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    1) Product Images from "A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest"

    Article Title: A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

    Journal: Human Genetics

    doi: 10.1007/s00439-015-1615-9

    a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in MToolBox. Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow
    Figure Legend Snippet: a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in MToolBox. Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow

    Techniques Used: Variant Assay



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    standalone version of mtoolbox  (SourceForge net)
    90
    SourceForge net standalone version of mtoolbox
    a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in <t>MToolBox.</t> Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow
    Standalone Version Of Mtoolbox, supplied by SourceForge net, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/standalone version of mtoolbox/product/SourceForge net
    Average 90 stars, based on 1 article reviews
    standalone version of mtoolbox - by Bioz Stars, 2026-06
    90/100 stars
    		  Buy from Supplier

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    a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in MToolBox. Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow

    Journal: Human Genetics

    Article Title: A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

    doi: 10.1007/s00439-015-1615-9

    Figure Lengend Snippet: a The histogram graphs the bimodal distribution of disease scores associated to 1872 non-synonymous variants (HmtDB, May 2014) observed in mtDNA sequences from healthy individuals and stored in HmtDB. The solid lines indicate the two gaussian components of the mixture model (McLachlan and Peel ) (46 and 54 %, respectively). The first component of the mixture model with the lowest disease score values included the most benign non-synonymous variants. The vertical dashed line is drawn at the selected Disease Score Threshold, DST, defined as 0.4311; non-synonymous variants featuring a DS above 0.4311 may, therefore, be considered potentially affecting function. b Box-plot diagram shows the disease scores of non-synonymous variants by class of ‘Neutral’ or ‘Disease’ prediction (disease scores ranging from 0.05 to 0.4311 and from 0.6565 to 0.9162, respectively, for each class) as returned by all six pathogenicity predictors implemented in MToolBox. Circles represent the outliers. c Empirical cumulative distribution function of nucleotide variability associated with the 816 non-synonymous variants, featuring a disease score above the established DST. Dashes vertical line indicates the nucleotide variability cutoff, NVC = 0.0026, defined as the third quartile of such distribution. Non-synonymous variants showing variability values below the NVC are filtered by the variant prioritization workflow

    Article Snippet: Disease scores and prioritization criteria are now implemented in both the standalone version ( http://sourceforge.net/projects/mtoolbox/ ) as well as in the web version of MToolBox at MSeqDR portal ( https://mseqdr.org/mtoolbox.php ) (Falk et al. ).

    Techniques: Variant Assay