US 2014/0228226 A1 · METHOD AND SYSTEM FOR DETERMINING CHROMOSOME ANEUPLOIDY OF SINGLE CELL

Abstract

Disclosed is a method for determining the chromosome aneuploidy of a single cell and a system for determining the chromosome aneuploidy of a single cell. Among them, the method for determining the chromosome aneuploidy of a single cell according to the embodiments of the present invention comprises: the whole genome of the single cell is sequenced to obtain a first sequencing result; the total number of sequencing data from the first sequencing result is counted, obtaining a value L; the number of sequencing data of a first chromosome from the first sequencing result is counted, obtaining a value M; a first parameter is determined based on the value L and the value M; and it is determined whether or not the single cell has aneuploidy in respect of the first chromosome based on the difference between the first parameter and a predetermined control parameter.

Claims26

Dependent claims

A method of determining a chromosome aneuploidy of a single cell, comprising:

sequencing a whole genome of the single cell to obtain a first sequencing result;
counting the total number of sequencing data which can be aligned to a reference genome in the first sequencing result, to obtain a value L;
counting the number of sequencing data which can be aligned to a first chromosome in the reference genome in the first sequencing result, to obtain a value M;
determining a first parameter based on the value L and the value M;
determining whether the single cell has an aneuploidy with respect to the first chromosome, based on a difference between the first parameter and a preset control parameter.

2 more elements

A system for determining a chromosome aneuploidy of a single cell, comprising:

a whole genome sequencing apparatus, for sequencing a whole genome of the single cell to obtain a first sequencing result;
a sequencing result analyzing apparatus, connected to the whole genome sequencing apparatus, configured to receive the first sequencing result from the whole genome sequencing apparatus and to perform following steps:
counting the total number of sequencing data which can be aligned to a reference genome in sequencing data of the first sequencing result, to obtain a value L;
counting the number of sequencing data which can be aligned to a first chromosome in the reference genome in the first sequencing result, to obtain a value M;
determining a first parameter based on the value L and the value M;
determining whether the single cell has an aneuploidy with respect to the first chromosome, based on a difference between the first parameter and a preset control parameter.

3 more elements

Dependencies are inferred from the claim text.

Method and system for determining chromosome aneuploidy of single cell

Life of this patent

Method and system for determining chromosome aneuploidy of single cell

Life of this patent

Abstract

Claims26