Systems and methods for determining genomic ploidy

• Main Authors: BLASEK JOHN D, BURKE JAMES, RIES BRADLEY, LARGE, MICHAEL, J
• Format: Patent
• Language: Chinese; English
• Published: 29.03.2022
• Subjects: INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

The invention provides a method for detecting embryo ploidy. The method comprises the following steps: receiving embryo sequence data; comparing the received sequence data with a reference genome; identifying a region of interest in the compared embryo sequence data; identifying a single nucleotide polymorphism (SMP) in the sequence data by comparing the received sequence data with an aligned reference genome; determining a ploidy score, including counting the number of SNPs observed in the region of interest; comparing the ploidy score with a predetermined threshold; and identifying the embryo as a polyploidy if the ploidy score is below a predetermined threshold. 本发明提供了一种检测胚胎倍性的方法，包括接收胚胎序列数据；将接收到的序列数据与参考基因组进行比对；在比对的胚胎序列数据中识别感兴趣的区域；通过将接收到的序列数据与比对的参考基因组进行比较来识别序列数据中的单核苷酸多态性(SMP)；确定倍性得分，包括对感兴趣区域中观察到的SNP的数量进行计数；将倍性得分与预定阈值进行比较；以及如果倍性得分低于预定阈值，则将胚胎识别为多倍体。