Method and apparatus for pattern identification in diploid...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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Reexamination Certificate

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07569348

ABSTRACT:
This invention provides methods for identifying mutations and methylation patterns in diploid DNA sequence signal data. In particular, the invention provides methods for (1) obtaining two parental allele sequences from diploid DNA sequence signal data, (2) identifying the mutation and haplotype patterns in the two parental allele sequences, (3) assigning likelihood scores for the mutations thus identified, and (4) identifying patterns of methylation.

REFERENCES:
patent: WO 97/00972 (1997-01-01), None
patent: WO 01/01218 (2001-01-01), None
Daly, M.J. et al. “High-resolution haplotype structure in the human genome,” Nature Genetics. Oct. 2001, vol. 29, pp. 229-232.
Martinez-Arias, Rosa et al. “Determination of Haploid DNA Sequences in Humans: Application to the Glucocerebrosidase Pseudogene,” Jan. 2002, vol. 13, No. 1, pp. 9-13.
Benton, D. “Bioinformatics—principles and potential of a new multidisciplinary tool,” Tibtech. Aug. 1996, vol. 14, pp. 261-272.
Clark, A. G.,Mol. Biol. Evol. 7(2): 111-122, 1990.
Keith, Jonathan M. et al.,Bioinformatics 18(11):1494-1499, 2002.
Stephens, M. et al.,Am. J. Hum. Genet. 68:978-989, 2001.

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