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Patent
Good Start Genetics | Date: 2016-09-15

Retrieval of one or more samples from a pediatric subject for genetic analysis of the subjects nucleic acid is often invasive and inconvenient. Methods for analyzing nucleic acid include non-invasive and/or convenient methods of sample retrieval such as the retrieval of one or more samples for genetic analysis from a patient that may have an infection in conjunction with testing for the infection. In one aspect, the infection is strep throat. Methods for analyzing nucleic acid may also include the retrieval of a sample from a placenta that has been delivered during birth of a child. In one aspect, the sample is cord blood and in another aspect the sample is chorion tissue. Methods for analyzing nucleic acid include conducting a genetic analysis on the retrieved sample by exposing a nucleic acid to a plurality of MIPs and subsequently sequencing and aligning and assembling the reads generated therefrom.


Patent
Good Start Genetics | Date: 2016-09-15

A genetic analysis system that provides a notification of new medical information that is non-trivial and significant to the results of a patients prior genetic test. The system retrieves clinical information from an outside database and also evaluates whether subsequent updates to that database are significant to the patient. If significant, the system provides a notification of the availability of new clinical information. Methods of the invention includes obtaining sequence data for a patient, retrieving from a database clinical information on a variant in the sequence data, and associating the clinical information with the variant in the memory subsystem. The method further includes determining whether an update to the clinical information has been published, evaluating significance of the update, and notifying a user of updated clinical information when significant.


Patent
Good Start Genetics | Date: 2015-12-04

The present invention generally relates to storing sequence read data. The invention can involve obtaining a plurality of sequence reads from a sample, identifying one or more sets of duplicative sequence reads within the plurality of sequence reads, and storing only one of the sequence reads from each set of duplicative sequence reads in a text file using nucleotide characters.


The present invention provides methods for validating results of a pre-implantation genetic screen. Methods of the invention increase the efficacy of the common PGS assay FAST-SeqS by taking advantage of single-nucleotide polymorphisms (SNPs) generated from the assay to confirm copy number calls, detect errors, identify samples, and recognize and identify sources of contamination. Methods of the invention increase the reliability of a PGS result, thereby making embryo selection more precise and improving outcomes of in vitro fertilization.


Patent
Good Start Genetics | Date: 2016-01-13

The invention generally relates to devices and systems for individually barcoding sample vessels. In certain embodiments, the devices comprise an attachment member and an extension member, where the extension member can accommodate an identifier, such as a barcode. When loaded into a substrate, the barcoded vials are scanned by a barcode reader.


Patent
Good Start Genetics | Date: 2015-08-14

The invention relates to using a graph database in genetic analyses to link mutation data to extrinsic data. Entities such as mutations, patients, samples, alleles, and clinical information are individually represented and stored as nodes and relationships between entities are also individually represented and stored. Each node and relationship can be stored using a fixed-size record and nodes can be flexibly invoked to represent any entity without disrupting the existing data. Systems and methods of the invention may be used for obtaining data representing a mutation in an individual and using a node in a graph database to store a description of the mutation. The node has stored within it a pointer to an adjacent node that provides information about a clinical significance of the variant. The graph database can be queried to provide a report of the clinical significance of the mutation.


Patent
Good Start Genetics | Date: 2015-12-30

The invention generally relates to methods for analyzing nucleic acids to identify novel mutations associated with diseases. In certain embodiments, methods of the invention involve obtaining nucleic acid from a subject having a disease, identifying at least one mutation in the nucleic acid, and comparing the mutation to a database of mutations known to be associated with the disease, wherein mutations that do not match to the database are identified as novel mutations.


Patent
Good Start Genetics | Date: 2015-09-09

The invention generally relates to negative selection of nucleic acids. The invention provides methods and systems that remove unwanted segments of nucleic acid in a sample so that a target gene or region of interest may be analyzed without interference from the unwanted segments. A sample is obtained that includes single-stranded nucleic acid with one or more unwanted segments. Complementary nucleic acid is added to the single-stranded nucleic acid to create a double-stranded region that includes the unwanted segment. The double-stranded region is then digested, leaving single-stranded nucleic acid that includes the target gene or region of interest. This allows paralogs, pseudogenes, repetitive elements, and other segments of the genome that may be similar to the target gene or region of interest to be removed from the sample.


Patent
Good Start Genetics | Date: 2015-09-18

The present disclosure describes a method of processing a biological sample. The method includes contacting the sample with a pH indicator that changes color in response to changes in pH. The presence of a pH indicator such as cresol red provides the benefit of improved visualization of the sample, verification that the sample is properly frozen and thawed, and increased precision in pH adjustments during the assay, among other benefits.


Patent
Good Start Genetics | Date: 2016-01-06

The invention relates to carrier screening and methods for describing a structural variant, such as a large rearrangement or chromosomal abnormality, in a persons genome using probes that are designed to determine the persons genetic sequence and reveal substitution mutations and small structural variants. Identifying a structural variant may include exposing a nucleic acid to a plurality of probes. Each probe has a linked pair of targeting arms designed to hybridize upstream and downstream of a target in a genome. The method includes hybridizing two of the probes to the nucleic acid and attaching the two probes together to create an inter-probe product as well as detecting the inter-probe product and reporting a structural variant of the genome in the nucleic acid.

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