MD ranks fifth among leading causes of global disease burden including developing countries, and by year 2030 it is predicted to represent one of the three leading causes of burden of disease worldwide [1], [2].
The novel DNA sequence variation g.56167A>G which is predicted to represent a synonymous p.S434S variation was found in this study in a patient with bilateral, progressive, mild to moderate sensorineural hearing loss who is also homozygous for the controversial p.V37I variation in GJB2 [25].
The wild-type alleles were predicted to represent 94.8% of haplotypes (Fig. 1B).
Thus, functional M5-DLO flippases are predicted to represent ∼1% (w/w) of the proteins in TE.
Within these graph-clusters, we identified 554 components that are predicted to represent highly divergent alleles of the same gene that can then be merged, 1,293 components that are predicted to represent alternative splicing events, and 158 components (pairs of duplicated contigs) that are predicted to represent duplicated genes.
When these BESs were subjected to sequence homology searches, it was found that 641 (11.6%) were predicted to represent protein-encoding regions, whereas 1,272 (23.0%) contained repetitive DNA.
The 64 SNPs that were predicted to represent differences between genes (paralogs or members of gene families) were removed prior to analysis of segregation patterns.
It should be noted that our proteomics study identified approximately 500 muscle proteins, which is predicted to represent only a fraction of the total muscle proteome.
Under the assumption that the D. viviparus genome codes for ~22,000 proteins [ 19], the EST clusters were predicted to represent ~10 15% of the proteins encoded by this genome.
A549 falls into the stage III/IV group and the other 5 were predicted to represent stage II tumors (Table 3).
