These findings show the power of TNGS in identifying sequence variations in a very large gene and the surprising results obtained in this study greatly expand the catalog of known VDR sequence variants that may represent an important clue in the emergence of vitamin D deficiency.
Genomic features of PKD1 also cause difficulty in identifying sequence variants [ 7].
We evaluated the performance of the new pyrosequencing technology of the GS-FLX (454 Life Sciences – Roche) in identifying sequence variants in pools of amplicons from human genomic DNA.
In recent years, exome sequencing (i.e. the sequencing of the full complement of protein-coding exons in the genome) has therefore become a favoured approach in identifying sequence variants causing rare as well as common human diseases [ 9- 11].
Directed search algorithms, which identify directly a small number of sequences, have achieved some success in identifying sequences with desired structures and functions.
While fragmentation was also an issue in identifying sequences in the opossum genome [ 22], the opossum genome generally has better coverage in these regions.
The interest in identifying sequences which qualified for more than one cluster and bridged multiple clusters of protein families drove a second modification of the clustering algorithm.
Residues that are present in previously identified sequence motifs are also contained in the important residue pairs.
We identified sequence alignment in only three cases.
The asparagine of the NPA boxes is therefore conserved in all identified sequences, except MtAqp-11.
