Determining relative relationships of people who share a common ancestor within at least a threshold number of generations includes: receiving recombinable deoxyribonucleic acid (DNA) sequence information of a first user and recombinable DNA sequence information of a plurality of users; processing, using one or more computer processors, the recombinable DNA sequence information of the plurality of users in parallel; determining, based at least in part on a result of processing the recombinable DNA information of the plurality of users in parallel, a predicted degree of relationship between the first user and a user among the plurality of users, the predicted degree of relative relationship corresponding to a number of generations within which the first user and the second user share a common ancestor.

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.

Provided herein is a method for sequence analysis that comprises analyzing PCR reactions that each contain different portions of the same sample, wherein at least some of the primer pairs are in more than one PCR reaction and at least one of the PCR reactions contains some but not all of the primer pairs of the other reaction(s).

Provided herein is a method for sequence analysis that comprises analyzing PCR reactions that each contain different portions of the same sample, wherein at least some of the primer pairs are in more than one PCR reaction and at least one of the PCR reactions contains some but not all of the primer pairs of the other reaction(s).

Provided are a method of detecting chromosomal aneuploidy of a targeted fetal chromosome, and a computer-readable medium having recorded thereon a program to be applied to performing the method. According to the present disclosure, fetal chromosomal aneuploidy may be non-invasively and prenatally diagnosed with excellent sensitivity and specificity.

Provided are a method of detecting chromosomal aneuploidy of a targeted fetal chromosome, and a computer-readable medium having recorded thereon a program to be applied to performing the method. According to the present disclosure, fetal chromosomal aneuploidy may be non-invasively and prenatally diagnosed with excellent sensitivity and specificity.

Systems and methods of storing and retrieving K-mer data in a data structure are provided. In certain embodiments, the K-mer data is stored as an integer value that defines an address of a slot in the data structure. In many embodiments, each slot in the data structure stores the remaining portion of the K-mer that is not part of the prefix. Additional embodiments are directed to genetic or genomic analysis using a data structure for storing K-mer data.

Systems and methods of storing and retrieving K-mer data in a data structure are provided. In certain embodiments, the K-mer data is stored as an integer value that defines an address of a slot in the data structure. In many embodiments, each slot in the data structure stores the remaining portion of the K-mer that is not part of the prefix. Additional embodiments are directed to genetic or genomic analysis using a data structure for storing K-mer data.

In examples, a method of controlling customer access to an assay system comprises (a) receiving a system identifier; (b) identifying said system identifier; and (c) utilizing information obtained from the system identifier to perform one or more operations selected from: (i) enabling full access to said system and/or a consumable used in said system; (ii) enabling partial access to said system and/or a consumable used in said system; or (iii) denying access to said system and/or a consumable used in said system.