10 results about "Fetal dna" patented technology

The invention provides methods for assessment of fetal DNA samples using target-enriched multiplexed parallel analysis. The methods of the invention utilize TArget Capture Sequences (TACS) to thereby enrich for target sequences of interest, followed by massive parallel sequencing and statistical analysis of the enriched population. The methods can be used with fetal or embryonic DNA samples, for example for detection of the presence of genetic abnormalities, e.g., for purposes of IVF Pre-implantation Genetic Screening (PGS) and Diagnosis (PGD). Kits for carrying out the methods of the invention are also provided.

The present application relates to the field of paternity determination, and provides a non-invasive prenatal paternity relationship determination method and system and electronic equipment, the method comprising: obtaining a paternal DNA sample and a pregnant woman's plasma free DNA sample, the pregnant woman's plasma free DNA sample including a fetal DNA sample; performing genomic sequencing on the paternal DNA sample and the pregnant woman's plasma free DNA sample; after genotype filling, determining the paternal genotype and the fetal genotype; calculating the kinship coefficient of the paternal genotype and the fetal genotype; based on the kinship coefficient of the paternal genotype and the fetal genotype and a pre-constructed corresponding relationship between the kinship coefficient and the paternity relationship, determining the paternity relationship between the father and the fetus. The present application solves the defects of low detection efficiency and high technical cost in the related art, and is convenient to operate, completely non-invasive, and does not cause any physiological interference to the pregnant woman and the fetus; the detection can be carried out from the seventh week of pregnancy, and is suitable for precise identification of the biological father of the fetus and unrelated individuals.

Provided are a method and apparatus for determining a concentration of fetal DNA. The method for determining the concentration of fetal DNA includes: acquiring multiple sequencing reads of a cell-free DNA (cfDNA) sample under test; aligning the multiple sequencing reads with a reference genome to obtain alignment results; and determining the concentration of fetal DNA based on the alignment results. The concentration of fetal DNA can be determined based on the alignment results between the sequencing reads and the reference genome so that applications to various sequencing platforms including a single-molecule sequencing platform can be satisfied, and the accuracy of determination of the concentration of fetal DNA can be improved.

The invention discloses a chromosome aneuploid analysis method and application, and the method comprises the following steps: calculating the fetal DNA concentration in a to-be-detected sample and the window depth of the to-be-detected sample in a set window by adopting the sequencing data of the to-be-detected sample and the comparison result of the to-be-detected sample; and calculating the average value of the relative depths of all the samples in the selected reference set in the set window as a correction baseline, correcting the window depth of the to-be-detected sample by adopting the correction baseline, calculating the Z value of the to-be-detected sample according to the corrected window depth, and judging whether the aneuploid abnormality occurs in the fetal chromosome of the to-be-detected sample according to the Z value. According to the method, the to-be-detected sample is corrected by calculating the correction baseline by selecting the reference set, so that the chromosome aneuploid abnormality of the to-be-detected sample can be more stably and accurately detected under the condition that no sample in the same batch is taken as a reference, and the batch fluctuation of detection is reduced.

This invention relates to a method for non-invasive prenatal screening using cell-free DNA extraction. Specifically, the invention provides a method and system for extracting cell-free DNA from liquid biological samples. The method can be used for determining fetal DNA fractions and for non-invasive prenatal screening of fetal aneuploidy and analysis of other types of cell-free DNA.

Provided are a method and device for determining fetal DNA concentration. The method for determining the concentration of fetal DNA includes: acquiring multiple sequencing reads of a cell-free DNA (cfDNA) sample under test; aligning the multiple sequencing reads with a reference genome to obtain alignment results; and determining the concentration of fetal DNA based on the alignment results. The concentration of fetal DNA can be determined based on the alignment results between the sequencing reads and the reference genome so that applications to various sequencing platforms including a single-molecule sequencing platform can be satisfied, and the accuracy of determination of the concentration of fetal DNA can be improved.

A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available, are disclosed. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data is acquired from embryonic cells, fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and / or genetic data taken from other related individuals.

Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.

The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital analysis is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.