Sequenom, Inc.

University of California

Andreas Braun

Christian Jurinke

Daniel P Little

Dirk Johannes Van Den Boom

Hubert K&ouml;ster

Hubert Köster

Karsten E Schmidt

Carolyn R Hoyal-Wrightson

Dirk Van Den Boom

Liyan He

Norman Chiu

Franz Hillenkamp

Ping Yip

Charles Rodi

Andreas Ruppert

Stefan M Kammerer

Charles Cantor

Gary Olson

Christopher Self

Hubert Koster

Charles Michael Cook

G Scott Higgins

Susan S Taylor

Dong-Jing Fu

Yip Ping

Charlie Rodi

Richard B Roth

Matthew Roberts Nelson

Rikard Reneland

Lora Burns-Hamuro

Kai Tang

Carsten W Siegert

Christiane Jurinke

Brigitte Darnhofer-Demar

Hubert Koester

Provided herein are methods, compositions and kits to extract and relatively enrich by physical separation or amplification short base pair nucleic acid in the presence of a high background of genomic material (e.g., host or maternal nucleic acids).

Methods and compositions for the extraction and amplification of nucleic acid from a sample

Processes and methods for creating a database of genomic samples from healthy human donors, methods that use the database to identify and correlate polymorphic genetic markers and other markers with diseases and conditions are provided.

Methods for generating databases and databases for identifying polymorphic genetic markers

Provided herein are methods for identifying risk of breast cancer in a subject and/or a subject at risk of breast cancer, reagents and kits for carrying out the methods, methods for identifying candidate therapeutics for treating breast cancer, and therapeutic methods for treating breast cancer in a subject. These embodiments are based upon an analysis of polymorphic variations in nucleotide sequences within the human genome.

Methods for identifying risk of breast cancer and treatments thereof

Provided are methods for detecting a target nucleic acid in a biological sample using RNA amplification. In an embodiment, provided is a method that comprises (a) amplifying a target nucleic acid, or portion thereof, using a primer comprising a sequence that is complementary to a polynucleotide sequence in the target nucleic acid, or a complement thereof, and a sequence that encodes an RNA polymerase promoter; (b) synthesizing RNA using an RNA polymerase that recognizes the promoter; and (c) detecting the presence or absence of the resulting RNA using mass spectrometry thereby detecting the presence or absence of the target nucleic acid in the biological sample.

DNA diagnostics based on mass spectrometry

A-kinase anchor protein (AKAPs) muteins, peptides thereof, and nucleic acids encoding the peptides are provided herein. Also provided are transgenic animals, cells comprising transgenes and various methods employing such peptides.

Kinase anchor protein muteins, peptides thereof and related documents

A method for detecting methylated nucleotides within a nucleic acid sample is provided. The method includes the steps of splitting a nucleic acid sample into separate reaction vessels; contacting nucleic acid in one reaction vessel with bisulfite; amplifying the nucleic acid in each reaction vessel; cleaving the nucleic acids in each reaction vessel to produce fragments thereof; and obtaining a mass spectrum of the resulting fragments from one reaction vessel and another mass spectrum of the resulting fragments from another reaction vessel.

Methods for detecting methylated nucleotides

Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

Polymorphic A-kinase anchor proteins (AKAPs) and nucleic acids encoding the proteins are provided herein. Methods of detecting polymorphic AKAPs and nucleic acids encoding the AKAPs, and kits for use in the detection methods are also provided. Further provided herein are methods of identifying subjects having or at risk of developing disorders of signal transduction. Methods of determining susceptibility to morbidity and/or increased or early mortality are also provided.

Polymorphic kinase anchor proteins and nucleic acids encoding the same

Fast and highly accurate mass spectrometry-based processes for detecting particular nucleic acid molecules and sequences in the molecules are provided. Depending upon the sequence to be detected, the processes, for example, can be used to diagnose a genetic disease or a chromosomal abnormality, a predisposition to a disease or condition, or infection by a pathogen, or for determining identity or heredity. One aspect provides a process for determining whether a target nucleotide is present in a nucleic acid molecule including hybridizing a nucleic acid molecule with a primer oligonucleotide; contacting the hybridized primer with deoxyribonucleoside triphosphates, chain terminating nucleotides and a DNA polymerase, whereby the hybridized primer is extended until a chain terminating nucleotide is incorporated, producing an extended primer, and determining the molecular mass of the extended primer, thereby determining whether the target nucleotide is present in a nucleic acid molecule.

The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

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San Diego, CA, United States of America

Andreas Braun