University of California

Quest Diagnostics Investments, Inc.

Clinical Genomics Pty. Ltd.

Frederic Waldman

Joe W Gray

Daniel Pinkel

Anne Kallioniemi

Olli-Pekka Kallioniemi

Heather R Sanders

Masaru Sakamoto

Feras Hantash

Kevin Z Qu

Hai-Rong Li

Ollie-Pekka Kallioniemi

James Prentice

Kevin Qu

Donna G Albertson

Susanne Kartin Pedersen

Amber C Donahue

Shih-Min Cheng

Rohan Baker

Antoine M Snijders

Yen-lin Peng

Bing Huey

Andrew Grupe

Jane Fridyland

Lawrence LaPointe

Joseph J Catanese

Yen-Lin Peng

Heather Sanders

Described herein are methods, compositions and kits directed to amplification of nucleic acids suitable for both next generation sequencing (NGS) and a second round of sequencing as validation, such as Sanger sequencing.

Universal Sanger sequencing from next-gen sequencing amplicons

The present technology relates to methods for determining whether a patient diagnosed with breast cancer, colorectal cancer, melanoma or lung cancer will benefit from or is predicted to be responsive to treatment with an individual therapeutic agent or a specific combination of therapeutic agents. These methods are based on screening a patient's solid tumors and detecting alterations in target nucleic acid sequences corresponding to a specific set of cancer-related genes. Kits for use in practicing the methods are also provided.

Methods for screening solid tumors for mutations

Disclosed herein is a combination of genomic sequences whose methylation patterns have utility for the improved detection and differentiation between colorectal neoplasms. Further disclosed herein are methods, nucleic acids and kits for detecting or differentiating between colorectal neoplasms.

Methylated markers for colorectal cancer

The present technology relates to methods for determining whether a patient having thyroid nodules with indeterminate cytology will benefit from diagnostic surgery, e.g., lobectomy. These methods are based on screening a patient's thyroid nodules and detecting alterations in target nucleic acid sequences corresponding to a specific set of thyroid cancer-related genes. Kits for use in practicing the methods are also provided.

Compositions and methods for screening mutations in thyroid cancer

Universal sanger sequencing from next-gen sequencing amplicons

Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).

Detection of chromosomal abnormalities associated with breast cancer

Comparative genomic hybridization

The present invention provides a method of detecting nucleotide sequence differences between two nucleic acid samples. The method employs a comparative genomic hybridization (CGH) technique to analyze the sequence differences between the samples. This method permits the identification of small sequence differences (e.g., sequence divergence of 1% or less) in nucleic acid samples of high complexity (e.g., an entire genome).

Detection of nucleic acid sequence differences by comparative genomic hybridization

Detection of chromosoal abnormalities associated with breast cancer

Comparative genomic hybridization (CGH)

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San Francisco, CA, United States of America

Frederic Waldman