Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract: This invention relates generally to diagnosing developmental disorders by detecting two or more genetic characteristics from a nucleic acid extracted from a sample taken from a patient. The genetic characteristics detected include nucleic acid expression profiles, nucleic acid sequences, and nucleic acid copy numbers. The genetic characteristics may be detected using sequencing technology, array based technology, or both. At least two genetic characteristics are compared to respective controls. From the comparison a diagnostic profile of a developmental disorder for the patient is formed.

Abstract: The invention provides methods for improving the fidelity of a sequencing-by-synthesis reaction by resequencing at least a portion of a nucleic acid template.

Abstract: A method for analyzing genomic data that includes obtaining genomic sequence information from an anonymous individual, processing the information via a secure computerized algorithm, and presenting phenotypic information to the individual based upon the genomic sequence information.

Abstract: The invention provides methods and devices for high throughput single molecule sequencing of a plurality of target nucleic acids using a universal primer. Devices of the invention comprise a plurality of oligonucleotides, each having the same sequence, bound to a solid support, and ligated to a plurality of target nucleic acids.

Abstract: In one aspect the invention relates to an apparatus for analyzing the presence of a single molecule using total internal reflection. In one embodiment an apparatus for single molecule analysis includes a support having a sample located thereon; two sources of light at distinct wavelengths, a collimator for directing the light onto the sample through a total internal reflection objective; a receiver for receiving a fluorescent emission produced by a single molecule in the sample in response to the light; and a detector for detecting each of the wavelengths in the fluorescent emission. In another embodiment the apparatus further comprises a focusing laser for maintaining focus of the objective on the sample.

Abstract: The invention provides methods for sequencing a polynucleotide comprising stopping an extension cycle in a sequence by synthesis reaction before the reaction has run to near or full completion.

Abstract: Methods are provided for selective nucleic acid sequence detection in single base primer extension reactions of high sensitivity. These methods are useful for detecting small amounts of mutant nucleic acid in a heterogeneous biological sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.

Abstract: Methods are provided for selective nucleic acid sequence detection in single base primer extension reactions of high sensitivity. These methods are useful for detecting small amounts of mutant nucleic acid in a heterogeneous biological sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.

Abstract: The invention provides devices and methods for analyzing a sample by distributing the sample along a continuous channel provided by a pathway of concatenated wells. The concatenated wells can be isolated from each other to form a series of independent subsamples. The invention is especially useful to isolate entities suspected to be present in a sample for individual analysis.

Abstract: Methods are provided for selective nucleic acid sequence detection in primer extension reactions of high specificity. These methods are useful for detecting small amounts of mutant nucleic acid in a heterogeneous biological sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.

Abstract: The present invention provides methods for the preparation of stool samples to increase the yield of relevant DNA, and further provides methods for isolating and analyzing target DNA for characteristics indicative of colorectal cancer. Methods for screening patients for the presence of cancerous or pre-cancerous colorectal lesions are also provided.

Abstract: The present invention provides methods for preparing a stool sample in order to screen for the presence of indicators of a disease, for example a subpopulation of cancerous or precancerous cells. The methods take advantage of the recognition that cellular debris from cancerous and precancerous cells is deposited onto only a longitudinal stripe of stool as the stool is forming in the colon. Accordingly, methods of the invention comprise obtaining a representative sample, such as a circumferential or cross-sectional sample of stool in order to ensure that any disease indicator, such as cellular debris that is shed by colonic cells, is obtained in the sample.

Abstract: Methods are provided for identifying nucleic acids. Methods of the invention are usefull for identifying and analyzing nucleic acids, especially variants of single nucleotide polymorphisms, that are indicative of disease or the predisposition for disease.

Abstract: The invention provides an apparatus for obtaining a stool specimen. The apparatus comprises a housing, a collection bag, a slider to close the collection bag and a draw string to move the slider. A user places the apparatus on a toilet, deposits a first stool into the collection bag, then pulls the draw string to move the slider to close the collection bag thereby allowing the user to urinate or further defecate.

Abstract: The present invention provides methods for the preparation of stool samples to increase the yield of relevant DNA, and further provides methods for isolating and analyzing target DNA for characteristics indicative of colorectal cancer. Methods for screening patients for the presence of cancerous or pre-cancerous colorectal lesions are also provided.

Abstract: Methods are provided for detection of lower-frequency molecules in relation to and against the background of higher-frequency molecules.

Abstract: The invention provides an apparatus for obtaining a stool specimen. The apparatus comprises a housing, a collection bag, a slider to close the collection bag and a draw string to move the slider. A user places the apparatus on a toilet, deposits a first stool into the collection bag, then pulls the draw string to move the slider to close the collection bag thereby allowing the user to urinate or further defecate.

Abstract: An apparatus for obtaining a stool specimen. The apparatus comprises a housing, a collection bag, a slider to close the collection bag and a draw string to move the slider. A user places the apparatus on a toilet, deposits a first stool into the collection bag, then pulls the draw string to move the slider to close the collection bag thereby allowing the user to urinate or further defecate.

Abstract: The invention provides methods of screening for disease in a patient by performing a non-invasive or minimally invasive genetic assay on a sample from the patient to detect characteristics indicative of the presence of a disease in the sample at a predetermined time following the performance of a diagnostic procedure on a patient to detect characteristics indicative of the presence of a disease. Methods of this invention are useful in screening for cancer.