Resulting 29 variants after filtration of exome data of a patient affected with nemaline myopathy.
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An initial 86,333 variants were reduced to 250 using criteria on the variant level, which resulted in the 29 variants after exclusion of genes already ascribed to diseases and based on specificity of skeletal muscle expression. Variants are then sorted according to the gene ranking calculated for the congenital myopathy group. Resulting 29 variants after filtration of exome data of a patient affected with nemaline myopathy.
创建时间：
2014-10-29
