Abstract: Provided herein are methods for aligning raw genetic sequence data generated by a sequencing device. Also provided herein are methods and systems for quantifying the probability that possible alignments for one or more read pairs are correct, for calling known variants, and for detecting novel structural variants.

Abstract: Method and systems for preparing and analyzing a DNA sample from a subject are provided herein. Also provided are methods and systems for obtaining, analyzing, and manipulating genomic and proteomic sequence data. In particular, methods and systems provided herein involve transformation of raw genetic or proteomic sequence into a compressed data set and transmission of the compressed data set using a fixed binary encoding scheme capable of compressing the data by up to 75%. An interface is in communication with the compression module and configured to display transmitted genomic and proteomic sequence data.

Abstract: In accordance with some embodiments, systems, methods, and media for classifying genetic sequencing results based on pathogen-specific adaptive thresholds are provided. In some embodiments, a system comprises a processor programmed to: receive negative control results, each comprising values indicative of a number of reads detected in the respective negative control sample for an organism; generate a model based on the negative control results; receive a clinical sample result for a clinical sample, comprising values indicative of a number of reads detected in the clinical sample for an organism of a plurality of organisms; identify, utilizing the model, any values in the clinical sample that are likely to be diagnostically significant; generate a report based on the clinical sample result and organisms associated with a value likely to be diagnostically significant; and cause the report to be presented to a user.

Abstract: In accordance with some embodiments, systems, methods, and media for determining relative quality of oligonucleotide preparations. In some embodiments, a system comprises a processor programmed to: (a) receive genetic sequencing results for multiple libraries with target concentrations of oligonucleotides; (b) calculate at least one prediction band; (c) repeat (a) and (b) for multiple preparations; (d) determine boundaries for a final prediction band based on the prediction bands calculated at (b) for each of the preparations; and (e) present a report indicative of quality of the libraries, including metrics indicative of the final prediction band.

Abstract: A device for compressing subject data. the device comprises a communication link, the communication link capable of receiving a set of subject data; a compression module, the compression module configured to apply a compression algorithm to the set of subject data, the compression algorithm compressing the set of subject data using a reference string of subject data; and a transmission module, the transmission module configured to transmit the compressed subject data. The device further comprising an encryption module for encrypting the subject data.

Abstract: Systems, devices, and methods for encrypting genetic information are provided herein. Also provided herein are systems, devices, and methods for encrypting compressed genetic data, transmitting encrypted compressed genetic data, and receiving, storing, accessing encrypted compressed genetic data. In some cases, a user interface is in communication with a system or device provided herein.

Abstract: Systems, devices, and methods for encrypting genetic information are provided herein. Also provided herein are systems, devices, and methods for encrypting compressed genetic data, transmitting encrypted compressed genetic data, and receiving, storing, accessing encrypted compressed genetic data.

Abstract: A device for compressing subject data. the device comprises a communication link, the communication link capable of receiving a set of subject data; a compression module, the compression module configured to apply a compression algorithm to the set of subject data, the compression algorithm compressing the set of subject data using a reference string of subject data; and a transmission module, the transmission module configured to transmit the compressed subject data. The device further comprising an encryption module for encrypting the subject data.

Abstract: Systems, devices, and methods for encrypting genetic information are provided herein. Also provided herein are systems, devices, and methods for encrypting compressed genetic data, transmitting encrypted compressed genetic data, and receiving, storing, accessing encrypted compressed genetic data. In some cases, a user interface is in communication with a system or device provided herein.

Abstract: A device for compressing subject data, the device comprises a communication link, the communication link capable of receiving a set of subject data; a compression module, the compression module configured to apply a compression algorithm to the set of subject data, the compression algorithm compressing the set of subject data using a reference string of subject data; and a transmission module, the transmission module configured to transmit the compressed subject data. The device further comprising an encryption module for encrypting the subject data.

Abstract: Provided herein are methods for aligning raw genetic sequence data generated by a sequencing device. Also provided herein are methods and systems for quantifying the probability that possible alignments for one or more read pairs are correct, for calling known variants, and for detecting novel structural variants.

Abstract: The present disclosure provides techniques for analysis of genetic features. In particular, machine learning techniques can be used to analyze various statistical features in determining genetic features such as variants, markers, and traits, for example in a nucleotide sequence.

Abstract: Systems, devices, and methods for encrypting genetic information are provided herein. Also provided herein are systems, devices, and methods for encrypting compressed genetic data, transmitting encrypted compressed genetic data, and receiving, storing, accessing encrypted compressed genetic data. In some cases, a user interface is in communication with a system or device provided herein.

Abstract: Method and systems for preparing and analyzing a DNA sample from a subject are provided herein. Also provided are methods and systems for obtaining, analyzing, and manipulating genomic and proteomic sequence data. In particular, methods and systems provided herein involve transformation of raw genetic or proteomic sequence into a compressed data set and transmission of the compressed data set using a fixed binary encoding scheme capable of compressing the data by up to 75%. An interface is in communication with the compression module and configured to display transmitted genomic and proteomic sequence data.

Abstract: A method for transforming a plurality of random biological sequence data to an ordered biological data sequence, the method comprises reading a reference biological data sequence; generating a plurality of indexes based on the reference biological data sequence; generating a library, the library including the plurality of indexes; organizing the library into an associative array; reading the plurality of random biological sequence data; encoding the plurality of random biological sequence data; comparing the encoded plurality of random biological sequence data to the reference biological sequence; and aligning the encoded plurality of random biological sequence data to the reference biological sequence using an alignment algorithm to generate a plurality of alignment data.

Abstract: A device for compressing subject data, the device comprises a communication link, the communication link capable of receiving a set of subject data; a compression module, the compression module configured to apply a compression algorithm to the set of subject data, the compression algorithm compressing the set of subject data using a reference string of subject data; and a transmission module, the transmission module configured to transmit the compressed subject data. The device further comprising an encryption module for encrypting the subject data.