Good Start Genetics, Inc.

Molecular Loop Biosciences, Inc.

Eric D Boyden

Mark Umbarger

Gregory J Porreca

The invention generally relates to methods for determining carrier status with respect to a condition or disease. In certain embodiments, the method involves exposing a sample to a plurality of molecular inversion probes capable of capturing DNA from at least one genomic region suspected of having an altered copy number and at least one internal control DNA known or suspected to have a stable copy number, capturing and sequencing DNA that binds to the molecular inversion probes, and determining a copy number state of the at least one genomic region based on the sequence results.

Methods for determining carrier status

The invention generally relates to a method for determining carrier or disease status with respect to a particular disease or condition. In certain embodiments, methods of the invention involve obtaining a sample including nucleic acid from a subject. The nucleic acid includes a genomic locus that is diagnostic for an autosomal recessive disease. The nucleic acid is captured and isolated from the sample and further sequenced. The method further includes analyzing sequence reads to determine a copy number of the captured nucleic acid and further determine a disease status based upon the copy number.

Methods for copy number determination

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.

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Cambridge, MA, United States of America

Eric D Boyden