公开(公告)号：WO2017210102A1

公开(公告)日：2017-12-07

申请号：PCT/US2017/034625

申请日：2017-05-26

Applicant: INSTITUTE FOR SYSTEMS BIOLOGY

Inventor： GLUSMAN, Gustavo ,  ROBINSON, Robert, Maxwell

IPC: C12Q1/68 ,  C40B20/00 ,  C40B40/06 ,  G06F19/10 ,  G06F19/22

CPC classification number: C12N15/1089 ,  C12Q1/68 ,  C12Q1/6827 ,  C40B20/00 ,  C40B40/06 ,  G16B20/20 ,  G16B30/00 ,  G16B35/10 ,  G16B35/20 ,  G16B45/00 ,  G16B50/40

Abstract: An ultra-fast solution to the problem of comparing genomes across sequencing technologies and genome freezes, while preserving privacy, is presented. A method for transforming a standard genome representation (i.e., a list of variants relative to a reference) into a "fingerprint" of the genome does not require knowledge of the technology, reference and encoding used, and yields fingerprints that can be readily compared to ascertain relatedness between two genome representations. Because of their reduced size, computation on the genome fingerprints is fast and requires little memory. This enables scaling up a variety of important genome analyses, including determinations of degree of relatedness, recognizing duplicative sequenced genomes in a set, and many others. Because the original genome representation cannot be reconstructed from its fingerprint, the method also has significant implications for privacy-preserving genome analytics.

Abstract translation: 本文介绍了一种快速解决跨测序技术和基因组冻结的基因组比较问题，同时保护隐私的超快速解决方案。 用于将标准基因组表示（即，相对于参考的变体列表）转换为“指纹” 的基因组不需要关于所使用的技术，参考和编码的知识，并且产生可以容易地比较的指纹以确定两个基因组表示之间的相关性。 由于它们的尺寸减小，基因组指纹图谱的计算速度很快并且只需很少的记忆。 这使得可以扩大各种重要的基因组分析，包括确定亲缘关系程度，识别一组中重复测序的基因组以及许多其他基因组。 由于原始基因组表达无法通过其指纹重建，因此该方法对保护隐私的基因组分析也具有重要意义。

公开(公告)号：WO2019084236A1

公开(公告)日：2019-05-02

申请号：PCT/US2018/057460

申请日：2018-10-25

Applicant: INSTITUTE FOR SYSTEMS BIOLOGY

Inventor： GLUSMAN, Gustavo ,  ROBINSON, Robert, Maxwell

IPC: G16B20/20 ,  G16B50/00

CPC classification number: G16B20/20 ,  G16B50/00

Abstract: An ultra-fast solution to the problem of comparing genotypes across genotyping technologies, while preserving privacy, is presented. A method for transforming a standard genotype representation (i.e., a list of alleles associated with IDs representing single nucleotide variants) into a "fingerprint" of the genotype does not require knowledge of the SNP chip technology, and yields fingerprints that can be readily compared to ascertain relatedness between two genotypes even if the genotypes were created using different SNP chip designs. Because of their reduced size, computation on the genotype fingerprints is fast and requires little memory. This enables scaling up a variety of important genotype analyses, including determinations of degree of relatedness, recognizing duplicative sequenced genotypes in a set, and many others. Because the original genotype representation cannot be reconstructed from its fingerprint, the method also has significant implications for privacy-preserving genotype analytics.