Canon U.S. Life Sciences, Inc.

Canon U.s.a., Inc.

Renee Howell

Kenton C Hasson

Johnathan Stuart Coursey

Deborah John Boles

Sami Kanderian

Scott O Sundberg

Lingxia Jiang

Fernando Weber DeCastro

Ling Xu

Jacquline Yancy

Stephanie Buszczak

Fernando DeCastro

Jacqueline Yancy

Deborah Boles

The present invention relates to the use of one or more amplicons as temperature calibrators. In some embodiments, the calibrators may be used to calibrate the temperature of a microfluidic channel in which amplification and/or melt analysis is performed. In some embodiments, the amplicons may be genomic, ultra conserved elements and/or synthetic. The amplicon(s) may have a known or expected melt temperature(s). The calibrators may be added to primers of study or may follow or lead the primers of study in the channel. The amplicon(s) may be amplified and melted, and the temperature(s) at which the amplicon(s) melted may be determined. The measured temperature(s) may be compared to the known temperature(s) at which the amplicon(s) was expected to melt. The difference(s) between the measured and expected temperatures may be used to calibrate/adjust one or more temperature control elements used to control and/or detect the temperature of the channel.

Thermal calibration

The present invention relates to methods and systems for genome scanning using high resolution melting analysis for identifying mutations and/or variants in genes of interest.

Methods and systems for sequential determination of genetic mutations and/or variants

The present invention relates to methods, kits, probes, and systems for distinguishing between nucleotide variants that are close in proximity on a gene. The methods, kits, probes, and systems can include the use of a small amplicon assay in combination with two unlabeled probes in a high resolution thermal melting analysis of a biological sample containing a locus of interest in order to discern between disease-causing and benign variants that are close in proximity on a gene within the biological sample. The present invention also relates to method of detecting a disease in a patient based on the patient's genotype by determining whether the patient has a disease-causing variant at a locus of interest. The signature melt curves produced by the unlabeled probe tests can be analyzed using HRMA software to distinguish between disease-causing and benign variants that are close in proximity on a gene within the biological sample.

Detection of neighboring variants

Growing community of inventors

Rockville, MD, United States of America

Renee Howell