METHODS FOR FRAGMENTOME PROFILING OF CELL-FREE NUCLEIC ACIDS

    公开(公告)号:US20190352695A1

    公开(公告)日:2019-11-21

    申请号:US16244966

    申请日:2019-01-10

    发明人: DIANA ABDUEVA

    IPC分类号: C12Q1/68 G16B20/20

    摘要: The present disclosure contemplates various uses of cell-free DNA. Methods provided herein may use sequence information in a macroscale and global manner, with or without somatic variant information, to assess a fragmentome profile that can be representative of a tissue of origin, disease, progression, etc. In an aspect, disclosed herein is a method for determining a presence or absence of a genetic aberration in deoxyribonucleic acid (DNA) fragments from cell-free DNA obtained from a subject, the method comprising: (a) constructing a multi-parametric distribution of the DNA fragments over a plurality of base positions in a genome; and (b) without taking into account a base identity of each base position in a first locus, using the multi-parametric distribution to determine the presence or absence of the genetic aberration in the first locus in the subject

    METHODS FOR FRAGMENTOME PROFILING OF CELL-FREE NUCLEIC ACIDS

    公开(公告)号:US20190287645A1

    公开(公告)日:2019-09-19

    申请号:US16315573

    申请日:2017-07-06

    发明人: DIANA ABDUEVA

    摘要: The present disclosure contemplates various uses of cell-free DNA. Methods provided herein may use sequence information in a macroscale and global manner, with or without somatic variant information, to assess a fragmentome profile that can be representative of a tissue of origin, disease, progression, etc. In an aspect, disclosed herein is a method for determining a presence or absence of a genetic aberration in deoxyribonucleic acid (DNA) fragments from cell-free DNA obtained from a subject, the method comprising: (a) constructing a multi-parametric distribution of the DNA fragments over a plurality of base positions in a genome; and (b) without taking into account a base identity of each base position in a first locus, using the multi-parametric distribution to determine the presence or absence of the genetic aberration in the first locus in the subject.