摘要:
Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
摘要:
Methods, computer program products and systems are provided for detecting large genomic rearrangements based on unphased genotype data obtained using common genotyping techniques that do not differentiate different alleles. In the method, unphased genotypes at a plurality of nucleotide variant markers of a particular gene in a diploid subject are compared with a canonical haplotype collection of the gene for a heterogeneous subject population. If the unphased genotypes cannot be reduced to a pair of canonical haplotypes within the canonical haplotype collection, it would indicate an increased likelihood that an allele of the gene in the diploid subject harbors a genomic rearrangement.
摘要:
Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
摘要:
Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
摘要:
Systems and methods for analyzing copy number of a target locus, detecting a disease associated with abnormal copy number of a target gene or a carrier thereof.
摘要:
The invention relates to a filter device, in particular for fluids contaminated with water admixtures, such as diesel oil, comprising a filter housing (1), which can hold at least one filter element (9), the fiber medium (11) of which separates an untreated side (13) from a treated side (19) during the filtration process in the filter housing (1), wherein a water collecting unit (5) is provided, which holds separated water on the treated side, wherein said filter device is characterized in that water that has been separated on the untreated side (13) also reaches the collecting unit (5) and in that mutually separated collecting chambers (61, 67) are present in the collecting unit (5) for the water that is discharged both at the treated side (19) and at the untreated side (13).
摘要:
The present invention provides, among other things, a simple, reproducible, and cost-effective method for enriching fetal or other low molecular weight nucleic acids in a biological sample. In certain embodiments, methods are provided for enriching fetal nucleic acids (e.g., fetal DNAs), typically comprising steps of adding a polymer such as PEG to a heterogeneous biological sample containing fetal DNA and high molecular weight non-fetal DNA such that the PEG precipitates substantially the high molecular weight non-fetal DNA, and purifying the fetal DNA from supernatant, thereby enriching the fetal DNA.
摘要:
The present invention provides a novel approach for identification and characterization of differentially represented fetal or maternal genomic regions in maternal circulation. Identification of overrepresented fetal genomic regions in the maternal circulation according to the present invention permit accurate analysis of fetal DNA without the need for enrichment or purification, which provides a simpler, more accurate and efficient prenatal diagnosis in early pregnancy. The present invention is particularly useful for noninvasive prenatal diagnosis during early pregnancy (e.g., during the first trimester).
摘要:
The invention relates to an apparatus for measuring blood oxygen saturation, comprising a housing (1), a sensor (2), a connecting cable (3) and a plug (4), wherein the housing (1) has a cavity (5) for accepting a patient's tissue which is supplied with blood; the sensor (2) which is arranged on the housing and has at least one light source (21) for the emission of light which passes through the tissue which is supplied with blood and a detector (22) for receiving the light passing through the tissue which is supplied with blood; and the apparatus can be connected to an evaluation unit via the plug (4).
摘要:
An apparatus for measuring the blood oxygen level of a patient is disclosed. In one embodiment, the apparatus includes a housing having an interior surface of non-reflective material substantially surrounding an interior. A cooperating light source and detector are operatively positioned proximate the interior surface so as to emit and receive light projected within the interior of the housing. A material more conducive to light transmission, reflectance, or a combination thereof—as compared to the interior surface material—is positioned proximate the light source and/or detector.