公开(公告)号：US20240395357A1

公开(公告)日：2024-11-28

申请号：US17773671

申请日：2020-11-02

Applicant: SEQUENOM, INC.

Inventor： Jill Rafalko ,  Theresa Boomer ,  Jason Chibuk ,  Samantha Caldwell ,  John A. Tynan ,  Eyad Almasri ,  Ronald Michael McCullough

IPC: G16B20/10

Abstract: Provided herein are bioinformatic tools and processes used to classify the presence or absence of genetic mosaicism for a copy number variation in one or more fetuses (e.g., predict whether one fetus or more than one fetus is affected with the copy number variation). Sample nucleic acid is subjected to a sequencing process and the resulting sequence reads are analyzed to identify a genetic copy number variation region. A genetic mosaicism for the copy number variation region is classified for one fetus or more than one fetus based on: (i) a mosaicism ratio of a fraction of nucleic acid having the copy number variation region to a fraction of fetal nucleic acid, and (ii) the chromosome having the genetic copy number variation region (e.g., the type of aneuploidy identified) or (ii) a number of fetuses being carried by the pregnant female.