G16B30/20

METHODS FOR PREPARING AN OPTIMAL COMBINATION OF OLIGONUCLEOTIDE SETS
20220372571 · 2022-11-24 · ·

The present invention relates to technologies for preparing an optimal combination of oligonucleotide sets used to simultaneously detect a plurality of target nucleic acid molecules. Unlike a conventional method of checking whether a dimer is formed in all candidate combinations of oligonucleotide sets, the present invention is capable of providing a combination of oligonucleotide sets used to detect a plurality of target nucleic acid molecules with speed and accuracy, by replacing only an oligonucleotide set with dimer formation in a first reference combination of oligonucleotide sets to provide, as a new reference combination, a combination with a reduction in dimer formation compared with the first reference combination, and replacing only an oligonucleotide set with dimer formation in the new reference combination to provide a combination with all dimers removed.

SYSTEMS AND METHODS FOR GENERATING AND ANALYZING A CUSTOMIZED GENOMIC SEQUENCE INCORPORATING GENE FUSIONS FOR THERAPEUTIC APPLICATIONS
20220375545 · 2022-11-24 ·

Systems and methods are described for genetic analysis. In certain embodiments, the system reads a plurality of input parameters, where the input parameters comprise a path to a gene fusion input file and stores the gene fusion input file. The gene fusion input file is comprised of break points of genetic sequences for one or more gene fusion events. The computer then receives data identifying chromosome location, start position, end position, and strand for each gene in the gene fusion input file and loads a standardized reference genome. The computer then compares the gene fusion input file to the standardized reference genome and generates a gene fusion index file. The gene fusion index file identifies gene fusion events in the customized reference genome and can be used to quantify the number or next generation sequencing reads aligned to the wild type allele and fused allele. Allelic expression of tumor fusions can be used to diagnose a genetic condition and enhance therapeutic options for cancer patients.

Methods for nucleic acid detection

The present disclosure provides methods and systems for sequencing nucleic acid molecules in a manner that enables higher sequencing accuracy. Methods and systems provided herein may enable sequences that may have low-accuracy reads, such as homopolymer sequences or other repeating sequences, to be determined at a higher accuracy and efficiency.

Improved Quality Value Compression Framework in Aligned Sequencing Data Based on Novel Contexts
20230053844 · 2023-02-23 ·

A method for compressing information includes accessing a read of genomic sequencing data, aligning the read to a reference, generating alignment data based on alignment of the read, obtaining a set of contexts based on the alignment data, and compressing quality values corresponding to the alignment data based on the set of contexts. The alignment data may provide an indication of errors in the genomic sequencing data, and each of the quality values may provide an indication of a probability of error at one or more bases in the genomic sequencing data.

METHOD FOR GENERATING FUNCTIONAL PROTEIN SEQUENCES WITH GENERATIVE ADVERSARIAL NETWORKS

The invention generally relates to the field of protein sequences and of generation of functional protein sequences. More particularly, the invention concerns a method for generating functional protein sequences with generative adversarial networks. The described method for functional sequence generation comprises plurality of steps, each of which is crucial to ensure the high percentage of functional sequences in the final sequence set: selecting a plurality of existing protein sequences to define the approximate sequence space for the later generated synthetic sequences, processing the selected protein sequences, approximating the unknown true distribution of amino acids of the pre-processed sequences using a variation of generative adversarial networks, obtaining protein sequences from the approximated distribution, processing of the obtained protein sequences. The described method provides a resource (e.g. time, cost) efficient way of producing synthetic protein sequences which have a high probability of being functional experimentally.

METHOD FOR GENERATING FUNCTIONAL PROTEIN SEQUENCES WITH GENERATIVE ADVERSARIAL NETWORKS

The invention generally relates to the field of protein sequences and of generation of functional protein sequences. More particularly, the invention concerns a method for generating functional protein sequences with generative adversarial networks. The described method for functional sequence generation comprises plurality of steps, each of which is crucial to ensure the high percentage of functional sequences in the final sequence set: selecting a plurality of existing protein sequences to define the approximate sequence space for the later generated synthetic sequences, processing the selected protein sequences, approximating the unknown true distribution of amino acids of the pre-processed sequences using a variation of generative adversarial networks, obtaining protein sequences from the approximated distribution, processing of the obtained protein sequences. The described method provides a resource (e.g. time, cost) efficient way of producing synthetic protein sequences which have a high probability of being functional experimentally.

Methods and apparatuses for a unified artificial intelligence platform to synthesize diverse sets of peptides and peptidomimetics

In one aspect, a method is disclosed wherein an artificial intelligence (AI) enabled automated flow synthesis platform is configured to generate optimized synthesizing recipes which enable a sequence to be synthesized using an automated flow process. The method includes receiving a synthesizing recipe including parameters used during the automated flow process to synthesize the sequence, receiving spectral data from detectors monitoring the automated flow process in a reaction chamber, where the spectral data corresponds to a reaction point in the automated flow process, and determining, based on indicators associated with the spectral data, characteristics of a chemical reaction at the reaction point in the automated flow process. An artificial intelligence engine determines the chemical reaction. The method includes associating, based on the spectral data, the synthesizing recipe with the chemical reaction.

Methods and apparatuses for a unified artificial intelligence platform to synthesize diverse sets of peptides and peptidomimetics

In one aspect, a method is disclosed wherein an artificial intelligence (AI) enabled automated flow synthesis platform is configured to generate optimized synthesizing recipes which enable a sequence to be synthesized using an automated flow process. The method includes receiving a synthesizing recipe including parameters used during the automated flow process to synthesize the sequence, receiving spectral data from detectors monitoring the automated flow process in a reaction chamber, where the spectral data corresponds to a reaction point in the automated flow process, and determining, based on indicators associated with the spectral data, characteristics of a chemical reaction at the reaction point in the automated flow process. An artificial intelligence engine determines the chemical reaction. The method includes associating, based on the spectral data, the synthesizing recipe with the chemical reaction.

Cell-free DNA methylation patterns for disease and condition analysis

Disclosed herein are methods and systems of utilizing sequencing reads for detecting and quantifying the presence of a tissue type or a disease type in cell-free DNA prepared from blood samples.

Cell-free DNA methylation patterns for disease and condition analysis

Disclosed herein are methods and systems of utilizing sequencing reads for detecting and quantifying the presence of a tissue type or a disease type in cell-free DNA prepared from blood samples.