Abstract: cfDNA reference material, for example, for use in verifying the accuracy and effectiveness of a diagnostic test, is generated from chromatin which may be sourced from whole cells. The chromatin may be treated with formaldehyde to form crosslinks between DNA and histones, for example, while the chromatin is contained within nuclear and/or plasma membranes. The fixed chromatin may be sheared by acoustic energy, which may also be used to lyse cell membranes within which the fixed chromatin may be contained. The sheared chromatin may be treated with an enzyme, such as micrococcal nuclease, to digest chromatin in linker regions of the DNA between nucleosomes and generate nucleosome material for use as cfDNA reference material.

Abstract: Focused acoustic treatment of samples may be used to differentially shear different fragment lengths of DNA or other nucleic acid portions of a sample. Relatively larger fragment lengths may be sheared while smaller fragment lengths are unaffected by the focused acoustic based shearing.

Abstract: Focused acoustic treatment of samples including a target biomolecule, such as cfDNA, may aid in the recovery of the biomolecule from a sample. cfDNA in a sample, whether chemically stabilized or not, may be linked or otherwise bound to histones or other proteins, e.g., by hydrogen bonds of histones or chaperone proteins to DNA and/or covalent crosslinks of such proteins to the DNA. Focused acoustic energy may remove or disrupt such links, aiding in isolation of the cfDNA from the sample.

Abstract: A method for lysing cells and shearing genomic DNA to reduce viscosity of the cell lysate. Cells may be lysed to release cell lysate, and the cell lysate may be treated with focused acoustic energy to shear genomic DNA so that the genomic DNA is sheared to DNA fragments having a fragment size no larger than 50% of the starting base pair size of the genomic DNA. Lysing and DNA shearing may be done by acoustic energy and in a single vessel, allowing for automated handling of cell lysate.

Abstract: Apparatus and method for lysing and recovering released material, such as proteins or other biomolecules. Sample material including cells may be at least partially frozen, thawed, cells lysed and biomolecules recovered in a single conduit, e.g., as the sample flows through the conduit. The conduit may include different zones for sample treatment, including a freezing zone, thawing zone, lysing/disassociation zone, etc., and protein or other recovered material may be delivered directly from the conduit to analysis equipment, such as a mass spectrometer. This allows a flow-through type processing of cells that avoids handling and transfer of sample material between different sample holders.

Abstract: Systems and methods for collecting blood and other liquid samples. A sample holder may include a cap and porous element arranged to receive a blood or other liquid sample. The porous element may be stored in a sealed container, e.g., immediately after blood sample collection, and the sample dried while sealed in the container.

Abstract: System and method for enhancing ligation of nucleic acid portions using focused acoustic energy.

Abstract: Focused acoustic treatment of samples may be used to differentially shear different fragment lengths of DNA or other nucleic acid portions of a sample. Relatively larger fragment lengths may be sheared while smaller fragment lengths are unaffected by the focused acoustic based shearing.

Abstract: cfDNA reference material, e.g., for use in verifying the accuracy and effectiveness of a diagnostic test, is generated from chromatin which may be sourced from whole cells. The chromatin may be treated with formaldehyde to form crosslinks between DNA and histones, e.g., while the chromatin is contained within nuclear and/or plasma membranes. The fixed chromatin may be sheared by acoustic energy, which may also be used to lyse cell membranes within which the fixed chromatin may be contained. The sheared chromatin may be treated with an enzyme, such as micrococcal nuclease, to digest chromatin in linker regions of the DNA between nucleosomes and generate nucleosome material for use as cfDNA reference material.

Abstract: Focused acoustic treatment of samples including a target biomolecule, such as cfDNA, may aid in the recovery of the biomolecule from a sample. cfDNA in a sample, whether chemically stabilized or not, may be linked or otherwise bound to histones or other proteins, e.g., by hydrogen bonds of histones or chaperone proteins to DNA and/or covalent crosslinks of such proteins to the DNA. Focused acoustic energy may remove or disrupt such links, aiding in isolation of the cfDNA from the sample.

Abstract: Systems and methods for collecting blood and other liquid samples. A sample holder may include a cap and porous element arranged to receive a blood or other liquid sample. The porous element may be stored in a sealed container, e.g., immediately after blood sample collection, and the sample dried while sealed in the container.

Abstract: This invention relates to isolated nucleic acids comprising single nucleotide polymorphisms of the human COX-2 gene and the proteins encoded by these nucleotides. The invention also relates to pharmacogenomics. The invention provides methods of using the polymorphisms in diagnostics and therapeutics.

Abstract: Novel methods for determining the existence or nonexistence of a test nucleotide on a strand of DNA are provided. The methods involve the use of a proofreading polymerase that is capable of incorporating a labeled nucleotide in a primer into and extension product if there is a match between the test nucleotide on the strand of DNA and the complementary nucleotide on the primer, but which excises the labeled nucleotide and does not incorporate it into an extension product if there is a mismatch. The presence or absence of the test nucleotide then may be established by determining whether the label is preserved or lost following the reaction. Methods involving the use of a quencher-chromophore pair are also provided.

Abstract: This invention relates to novel polymorphisms of the NAT-2 gene which can be involved in drug metabolism and various disorders.