Fetal sex determination using capillary blood from upper arm

    公开(公告)号:US11932907B2

    公开(公告)日:2024-03-19

    申请号:US18307666

    申请日:2023-04-26

    发明人: Christopher Jacob

    CPC分类号: C12Q1/6879 C12Q1/6806

    摘要: The disclosure relates to methods, compositions, and kits for the early determination of the sex of a fetus. The disclosure also provides methods, compositions, and kits for detecting fetal nucleic acids in biological samples (e.g., cell-free fetal DNA). An embodiment includes a method of improving the accuracy of fetal sex determination by reducing a level of contaminating DNA in a blood sample from a pregnant human subject, comprising obtaining a capillary blood sample collected from the upper arm using a push-button blood collection device, thereby reducing a level of contaminating DNA from a non-maternal and non-fetal source in the capillary blood sample as compared to a blood sample collected from a site on the finger or hand of the subject, and detecting the presence or absence of fetal Y-chromosome to determine the sex of the fetus.

    METHODS FOR ISOLATING CIRCULATING NUCLEIC ACIDS FROM URINE SAMPLES

    公开(公告)号:US20230183672A1

    公开(公告)日:2023-06-15

    申请号:US17813570

    申请日:2022-07-19

    申请人: JBS Science Inc.

    摘要: Provided herein includes a method for characterizing a target cell-free nucleic acid (cfNA) molecule present in a biological sample such as a urine sample. It comprises isolating total cfNAs from the biological sample without prior preprocessing such as centrifugation to remove cell debris, and characterizing the target cfNA molecule based on the isolated total cfNAs. When the target cfNA is a low molecular weight (LMW) molecule, the method additionally comprises a fractionation step to obtain LMW nucleic acids from the total cfNAs before characterization. The method can detect significantly more copies of the target cfNA molecule compared with existing methods which typically discard the cell debris from the biological sample. Another method is also provided, which substantially recovers cfNAs from the usually discarded cell debris, thus also capable of detecting significantly more copies of the target cfNA molecule.

    Sample Validation for Cancer Classification

    公开(公告)号:US20220090211A1

    公开(公告)日:2022-03-24

    申请号:US17458194

    申请日:2021-08-26

    申请人: GRAIL, Inc.

    摘要: Systems and methods for validating that a DNA sample is from a test subject are disclosed. The test subject reports one or more characteristics (biological sex, ethnicity, and/or age) that may be predicted from the DNA sample. The predictions are compared to the reported characteristics to validate the DNA sample. To validate according to biological sex, the system determines a Y-chromosome signal based on counts of sequence reads for a gene specific to the Y chromosome and, similarly, an X-chromosome signal using another gene specific to the X chromosome. The biological sex is predicted based on a comparison of the two signals. To validate according to ethnicity, the system predicts ethnicity based on detected allele frequencies for SNPs specific to each chromosome. To validate according to age, the system calculates the methylation densities for age-informative CpG sites. The system utilizes trained regression models to predict the age using the methylation densities.