It is an invention aimed at providing methods for optimizing read information mapped to the particular gene loci such as MHC loci under a framework of probabilistic statistical processing. In the present invention, a step in which for all reads, calculation of the expected number of mappings to alleles of the particular gene loci is performed for read information in which mapping of reads to alleles of the particular gene loci is identified, a step in which the total number of expected mappings for each allele is calculated, and a step in which the fraction of reads allocated to each allele is calculated, are repeatedly executed, in which the optimization of read information is performed in a computer, and based on the optimized information, a method of easily and accurately estimating the genotypes of the particular gene loci, a computer system, and a computer program capable of easily and accurately estimating the genotype of the particular gene loci, are provided.

A system and method of selecting genes for a gene panel, includes retrieving gene-disease associations of genes associated with diseases at a given level in the disease hierarchy from a disease association database. The disease association database stores disease information, gene information, phenotype information, associations between diseases in the disease hierarchy, gene-disease associations and strength parameters related to the gene-disease associations. For each gene associated with the diseases at the given level, the strength parameters are weighted and combined to determine a rank score for the each gene. The genes are ranked based on the rank scores to provide ranked gene information. The ranked gene information is linked with diseases at the higher levels of the disease hierarchy based on hierarchical relationships. The ranked gene information for gene-disease associations can be used to select genes for a gene panel design.

The present invention generally relates to systems and methods for assessing female fertility and infertility, male fertility and infertility and the combined fertility profile of a male and a female. Systems and methods of the invention determine the fertility potential of a female and a male combined by conducting an assay on a sample obtained from the male and female to determine the presence of one or more fertility-associated genetic variants, obtain fertility-associated phenotypic and/or environmental data from the male and the female, accepting as input data, the genetic variants determined from the female and male and phenotypic and/or environmental exposure data from the male and female, analyze the input data using a prognosis predictor correlated with fertility, and generate a fertility profile that reflects the fertility potential of the male and the female combined by using the prognosis predictor on the input data.

Methods for identifying and classifying differences between biological samples are based on replication timing (RT) data. By comparing RT data for a test sample(s) to RT data for already characterized samples, one can identify differences and profile any new cell type or disease. These new methods allow for the detection of all the changes between distinct samples, many of which would escape detection by previous methods that discard any features showing any intra-sample variation.

The present disclosure provides methods for optimizing barcode design for multiplex DNA sequencing. Also disclosed are DNA barcodes optimized for use with particular sequencing technologies.

The invention generally relates to methods and devices for assessing risk of female infertility. In certain aspects, methods of the invention involve obtaining a sample, conducting an assay on at least one infertility-associated biomarker, and assessing risk to the patient of developing early-onset decrease in fertility based upon results of the assay.

Phasing unphased genotype data of an individual includes: obtaining the unphased genotype data of the individual; processing the unphased genotype data to determine phased haplotype data, the processing comprising performing out-of-sample population-based phasing on the unphased genotype data; wherein: performing out-of-sample population-based phasing includes performing statistical analysis using predetermined reference data that is based on genotype data of a reference population; and the genotype data of the reference population does not reference the genotype data of the individual.

The use of specific microRNAs (miRNAs) present in CSF as biomarkers for particular brain malignancies and disease activity.

A method for at least one of characterizing, diagnosing, and treating a locomotor system condition in at least a subject, the method comprising: receiving an aggregate set of biological samples from a population of subjects; generating at least one of a microbiome composition dataset and a microbiome functional diversity dataset for the population of subjects; generating a characterization of the locomotor system condition based upon features extracted from at least one of the microbiome composition dataset and the microbiome functional diversity dataset; based upon the characterization, generating a therapy model configured to correct the locomotor system condition; and at an output device associated with the subject, promoting a therapy to the subject based upon the characterization and the therapy model.

A repeatable methodology for generation of a specific biological function library (data pool) and techniques for structuring queries that cluster and parse gene and protein alterations in individual patients and patient cohorts. Method enables analytical distinction between detectable changes in biological function and non-detectable changes in biological function using current diagnostic techniques and technologies.