Abstract: Methods and systems for simultaneously evaluating genomic or biological sequences across multiple population members, and methods and systems for simultaneously calling normal and cancerous genomic or biological sequences from a mixed sample containing normal and cancerous material are disclosed. This may be achieved by evaluating the probability of one or more hypothesis being correct for a plurality of population members based on genomic or biological sequence information for the population. For related family members, Mendelian inheritance may be integrated into the method. For populations, information from members under evaluation may be used to refine priors to more accurately call population members. Copy number variation, de novo mutations, and phenotypic traits and their genetic explanations may also be accommodated in the methods. Specific systems for implementing the methods are also disclosed.

Abstract: A computer implemented method for characterizing one or more sequences by generating index values representing portions of the sequences and finding characterizing index values based on a comparison of the index values. The index values may be obtained by applying one or more mask over each sequence. The modified masks may have associated weightings and index values obtained using modified masks may be retained in the index only if the weightings are above a threshold value. Characterising index values may also be assessed for for their degree of uniqueness. Characterizing indexes may be used for predicting correlation between a sample sequence and one or more reference sequences. Biological monitoring systems utilising the characterizing index values are also disclosed. A biological indicator may be generatgenerated using one or more characterizing index values obtained by the above method and be used to produce an indicator that undergoes a property change in the presence of the one or more sequence.

Abstract: A method of evaluating correlation between sequences by employing a hierarchy of evaluation algorithms. The evaluation algorithms may be arranged in order of computational efficiency as specified by a user or as determined by the system. The algorithms may range from a simple equality algorithm through to seeded alignment algorithms etc. Distributed and parallel processing systems may be employed in the method of the invention in graphical processing units may be employed. The method may be employed with a wide range of sequencers including sequencers produced by Illumina Inc Complete Genomics Inc. and Pacific Biosciences Inc.

Abstract: Methods and systems for simultaneously evaluating genomic sequences across multiple population members, and methods and systems for simultaneously calling normal and cancerous genomic sequences from a mixed sample containing normal and cancerous material are disclosed. This may be achieved by evaluating the probability of one or more hypothesis being correct for a plurality of population members based on genomic sequence information for the population. For related family members, Mendelian inheritance may be integrated into the method. For populations, information from members under evaluation may be used to refine priors to more accurately call population members. Copy number variation and de novo mutations may also be accommodated in the methods. Specific systems for implementing the methods are also disclosed.

Abstract: Methods and systems for simultaneously evaluating biological sequences across multiple population members, and methods and systems for simultaneously calling normal and cancerous biological sequences from a mixed sample containing normal and cancerous material are disclosed. This may be achieved by evaluating the probability of one or more hypothesis being correct for a plurality of population members based on biological sequence information for the population. For related family members, Mendelian inheritance may be integrated into the method. For populations, information from members under evaluation may be used to refine priors to more accurately call population members. Copy number variation, de novo mutations, and phenotypic traits and their genetic explanations may also be accommodated in the methods. Specific systems for implementing the methods are also disclosed.

Abstract: A method and system are provided for evaluating the correlation between sequences by entering segments of one sequence in a database and comparing segments of the other sequence with the index values to find correlated segments. The correlated segments are analysed to determine whether the spacing is within a defined range indicating that a correlation threshold has been met. A processing methodology may be employed whereby a coarse potential alignment algorithm is first applied to determine potential alignment at a plurality of potential alignment positions, which are filtered based on alignment scores, and a fine alignment algorithm is then applied.

Abstract: A method of evaluating correlation between sequences by employing a hierarchy of evaluation algorithms. The evaluation algorithms may be arranged in order of computational efficiency as specified by a user or as determined by the system. The algorithms may range from a simple equality algorithm through to seeded alignment algorithms etc. Distributed and parallel processing systems may be employed in the method of the invention in graphical processing units may be employed. The method may be employed with a wide range of sequencers including sequencers produced by Illumina Inc Complete Genomics Inc. and Pacific Biosciences Inc.