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 detecting fetal chromosomal aberrations by detecting statistically-significant differences between normal and aberrant chromosomes.

Abstract: Methods are disclosed for the detection and diagnosis of disease by determining differences in the number of RNA molecules in a patient sample compared to an expected number.

Abstract: Methods of the invention comprise assays for markers indicative of cancer or precancer. Assays of the invention are performed on samples obtained from a patient by non-invasive or minimally-invasive methods. The invention provides nucleic acid indicia of cancer or precancer with high sensitivities and high specificities for detection.

Abstract: Methods are provided for detecting fetal chromosomal aberrations by detecting statistically-significant differences between normal and aberrant chromosomes.

Abstract: Methods are provided for detecting loss of heterozygosity in a pooled nucleic acid sample obtained from a patient population. These methods are particularly useful for identifying populations or individuals within a population with gene mutations indicative of early colorectal cancer.

Abstract: Methods are provided for detecting loss of heterozygosity in a nucleic acid sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.

Abstract: Methods are provided for high-throughput screening for the presence of genetic alterations and disease-causing microorganisms in a biological sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.

Abstract: Disclosed are methods for the detection of loss of genomic integrity characteristic of genomic instability. The methods are especially useful for detection of deletions of genomic DNA that occur in early stages of Cancer, especially colorectal cancer. Methods of the invention involve the detection in a biological sample of a nucleic acid fragment which includes both 3' and 5' DNA sequence which normally flank a region where a deletion is suspected. The assay is designed as disclosed herein such that there is only a small or negligible likelihood that the fragment will be present unless a deletion has occurred.

Abstract: The present invention provides methods for screening for the presence of a subpopulation of cancerous or precancerous cells in a heterogeneous cellular sample, such as a stool sample. 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 cross-sectional sample of stool in order to ensure that any cellular debris that is shed by colonic cells is obtained in the sample.

Abstract: Methods are provided for detecting the presence of mutant sequences in a subpopulation of gene sequences in a biological sample. These methods are particularly useful for identifying individuals with gene mutations indicative of early colorectal cancer.