Variant filtering results using MAQ software.
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https://figshare.com/articles/dataset/_Variant_filtering_results_using_MAQ_software_/526500
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A lack of correlation between MAQ score (MS) and Sanger sequencing confirmation was observed, since variants showing a MS = 255 (maximum) were not confirmed whereas others with a MS = 55 were validated.
aMAQ score for individual 1/individual 2.
bvariant selected in a non-candidate chromosome for this family because of the truncating effect.
cNo MIM reference [25].
drecently described in the Ensembl database.
创建时间：
2010-04-02
