公开(公告)号：US20250069714A1

公开(公告)日：2025-02-27

申请号：US18919011

申请日：2024-10-17

Applicant: ILLUMINA, INC.

Inventor： Shile Zhang ,  Alex S. So ,  Shannon Kaplan ,  Kristina M. Kruglyak ,  Sven Bilke

IPC: G16H10/60 ,  C12Q1/6869 ,  C12Q1/6886 ,  G01N33/50 ,  G06F9/30 ,  G16B20/20 ,  G16B30/20

Abstract: Presented herein are techniques for determining microsatellite instability. The techniques include generating a reference sample dataset representative of or mimicing a hypothetical matched sample for an 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 lacking a 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.

公开(公告)号：US20190156922A1

公开(公告)日：2019-05-23

申请号：US16191142

申请日：2018-11-14

Applicant: ILLUMINA, INC.

Inventor： Shile Zhang ,  Alex S. So ,  Shannon Kaplan ,  Kristina M. Kruglyak ,  Sven Bilke

IPC: G16H10/60 ,  C12Q1/6886 ,  G01N33/50 ,  G16B30/20 ,  G06F9/30

Abstract: Presented herein are techniques for determining microsatellite instability. The techniques include generating a reference sample dataset representative of or mimicking a hypothetical matched sample for an 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 lacking a 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.

公开(公告)号：US12154664B2

公开(公告)日：2024-11-26

申请号：US16191142

申请日：2018-11-14

Applicant: ILLUMINA, INC.

Inventor： Shile Zhang ,  Alex S. So ,  Shannon Kaplan ,  Kristina M. Kruglyak ,  Sven Bilke

IPC: G16H10/60 ,  C12Q1/6869 ,  C12Q1/6886 ,  G01N33/50 ,  G06F9/30 ,  G16B20/20 ,  G16B30/20

Abstract: Presented herein are techniques for determining microsatellite instability. The techniques include generating a reference sample dataset representative of or mimicking a hypothetical matched sample for an 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 lacking a 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.