Veracyte, Inc.

Genzyme Corporation

Exact Sciences Corporation

Esoterix Genetic Laboratories, LLC

Duncan H Whitney

Anthony P Shuber

Lisa Kann

Michael Elashoff

Jun Luo

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.

Algorithms for disease diagnostics

The invention in some aspects provides methods of determining the likelihood that a subject has COPD based on the expression of informative-genes. In other aspects, the invention provides methods for determining an appropriate diagnostic intervention plan for a subject based on the expression of informative-genes. Related compositions and kits are provided in other aspects of the invention.

Methods for evaluating COPD status

Methods and compositions are provided for detecting the presence of nucleic acid sequence variants in a subpopulation of nucleic acid molecules in a biological sample. These methods are particularly useful for identifying individuals with mutations indicative of cancer.

Methods for analysis of molecular events

Improved methods for the separation, isolation, enrichment, or detection of target molecules, such as nucleic acids and proteins, within dilute or heterogeneous samples, such as bodily fluids, excreta or tissue samples, are disclosed. The methods include repetitively and rapidly passing a sample across at least one region of a conduit in which at least one region includes a binding partner specific for the target molecule. In certain methods, at least one other region includes binding partners specific for non-target molecules. The sample may be passed over the binding partner in the same direction if the conduit is a loop or in an antiparallel direction (i.e., back and forth over the binding partner). In an embodiment, the sample is electrophoresed through or over an electrophoretic medium, in which at least one region includes a binding partner for the target molecule. The invention also provides apparatus and sample preparation systems adapted for use in the methods.

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Sudbury, MA, United States of America

Duncan H Whitney