SYSTEMS AND METHODS FOR DETERMINING MICROSATELLITE INSTABILITY

• Main Authors: BILKE SVEN, SO ALEX S, KRUGLYAK KRISTINA M, ZHANG SHILE, KAPLAN SHANNON
• Format: Patent
• Language: Chinese; English
• Published: 14.02.2020
• Subjects: INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

Presented herein are techniques for determining microsatellite instability. The techniques include generating a reference sample dataset representative of or mimicing a hypothetical matched sample foran individual sample of interest. The reference sample dataset may be generated from a set of reference normal samples that are not matched to the sample of interest. For samples of interest lackinga matched sample, the reference sample dataset may be used to determine microsatellite instability and to provide an indication of a presence, absence, or degree of microsatellite instability of the sample of interest. The reference sample dataset may be generated such that individual microsatelliate regions associated with a high degree of variability between ethnic groups are filtered out, masked, or otherwise not considered. 本文展示用于确定微卫星不稳定性的技术。这些技术包括生成代表或模拟个体目的样品的假定性匹配样品的参比样品数据集。参比样品数据集可以生成自不匹配于目的样品的参比正常样品集合。对于缺少匹配样品的目的样品，参比样品数据集可以用来确定微卫星不稳定性及用来提供目的样品的微卫星不稳定性的存在、不存在或程度的指示。参比样品数据集可以如此生成，从而过滤、掩蔽或否则不考虑与族群之间高程度变异性相关的个体微