A system and method may be provided to receive sample RNA reads from patients and generate lists of genes and their associated RNA expression levels in each patient. Some of the RNA reads may be matched to an RNA transcript or gene or gene family in terms of their match likelihood and other RNA reads may be matched to an RNA transcript or gene or gene family through the use of one or more machine learning classifiers. A machine learning classifier may be trained based on the plurality of the lists and a plurality of corresponding patients’ clinical status data to identify gene patterns that recur with a high degree of frequency in the plurality of the lists. Those gene patterns can be capable of modifying a disease or treatment response and can be targeted for drug/treatment development.

A system and method may be provided to receive sample RNA reads from patients and generate lists of genes and their associated RNA expression levels in each patient. Some of the RNA reads may be matched to an RNA transcript or gene or gene family in terms of their match likelihood and other RNA reads may be matched to an RNA transcript or gene or gene family through the use of one or more machine learning classifiers. A machine learning classifier may be trained based on the plurality of the lists and a plurality of corresponding patients’ clinical status data to identify gene patterns that recur with a high degree of frequency in the plurality of the lists. Those gene patterns can be capable of modifying a disease or treatment response and can be targeted for drug/treatment development.

The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are aligned to the contig. Mutations are identified based on the alignments to the reference and to the contig.

The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are aligned to the contig. Mutations are identified based on the alignments to the reference and to the contig.

Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.

Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.

A system, a method and a non-transitory computer readable storage medium for base calling are described. The base calling method includes processing through a neural network first image data comprising images of clusters and their surrounding background captured by a sequencing system for one or more sequencing cycles of a sequencing run. The base calling method further includes producing a base call for one or more of the clusters of the one or more sequencing cycles of the sequencing run.

Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.

A computer-implemented method of selecting one or more amino acid sequences for inclusion in a vaccine from a set of predicted immunogenic candidate amino acid sequences includes identifying an immune profile response value for each candidate amino acid sequence with respect to each one of a plurality of sample components of an immune profile. The immune profile response value represents whether the respective candidate amino acid sequence results in an immune response for the sample components of the immune profile. A plurality of immune profiles are retrieved for a population. A plurality of representative immune profiles are generated for the population. The representative immune profiles overlap with the sample components of the immune profiles. The one or more amino acid sequences for inclusion in the vaccine that minimises a likelihood of no immune response for each representative immune profile, based on the immune profile response values, are selected.

A computer-implemented method of selecting one or more amino acid sequences for inclusion in a vaccine from a set of predicted immunogenic candidate amino acid sequences includes identifying an immune profile response value for each candidate amino acid sequence with respect to each one of a plurality of sample components of an immune profile. The immune profile response value represents whether the respective candidate amino acid sequence results in an immune response for the sample components of the immune profile. A plurality of immune profiles are retrieved for a population. A plurality of representative immune profiles are generated for the population. The representative immune profiles overlap with the sample components of the immune profiles. The one or more amino acid sequences for inclusion in the vaccine that minimises a likelihood of no immune response for each representative immune profile, based on the immune profile response values, are selected.