公开(公告)号：US20190156922A1

公开(公告)日：2019-05-23

申请号：US16191142

申请日：2018-11-14

申请人： ILLUMINA, INC.

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

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

摘要： 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：US20210130885A1

公开(公告)日：2021-05-06

申请号：US17145846

申请日：2021-01-11

申请人： ILLUMINA, INC.

发明人： Alex So ,  Li Liu ,  Min-Jui Richard Shen ,  Neeraj Salathia ,  Kathryn M. Stephens ,  Anne Jager ,  Timothy Wilson ,  Justin Fullerton ,  Sean M. Ramirez ,  Shannon Kaplan ,  Rigo Pantoja ,  Bala Murali Venkatesan ,  Steven Modiano

IPC分类号： C12Q1/6837 ,  C12Q1/6874 ,  C12Q1/6816 ,  C12Q1/6855

摘要： Presented are methods and compositions for spatial detection and analysis of nucleic acids in a tissue sample. The methods can enable the characterization of transcriptomes and/or genomic variations in tissues while preserving spatial information about the tissue.

公开(公告)号：US20210254170A1

公开(公告)日：2021-08-19

申请号：US17172380

申请日：2021-02-10

申请人： ILLUMINA, INC.

发明人： Mahdi Golkaram ,  Shile Zhang ,  Li Liu ,  Aaron Wise ,  Joyee Yao ,  Shannon Kaplan ,  Alex So ,  Michael Salmans ,  Raakhee Vijayaraghavan

IPC分类号： C12Q1/6886

摘要： A potential prognostic biomarker is based on a combination of a composite score generated by sequence analysis of global human endogenous retrovirus (hERV)/retro-transposon transactivation and a cell signature generated using deconvolution of immune cells within a tumor sample for predicting the efficacy of chemotherapeutic agents and immune checkpoint inhibitors. Correlation analysis of the composite score with cell signature within a tumor sample enables survival analysis in individuals receiving chemotherapeutic agents and immune checkpoint inhibitors.

公开(公告)号：US10913975B2

公开(公告)日：2021-02-09

申请号：US15747670

申请日：2016-07-21

申请人： ILLUMINA, INC.

发明人： Alex So ,  Li Liu ,  Min-Jui Richard Shen ,  Neeraj Salathia ,  Kathryn M. Stephens ,  Anne Jager ,  Timothy Wilson ,  Justin Fullerton ,  Sean M. Ramirez ,  Shannon Kaplan ,  Rigo Pantoja ,  Bala Murali Venkatesan ,  Steven Modiano

IPC分类号： C12Q1/68 ,  C12Q1/6837 ,  C12Q1/6874 ,  C12Q1/6816 ,  C12Q1/6855

摘要： Presented are methods and compositions for spatial detection and analysis of nucleic acids in a tissue sample. The methods can enable the characterization of transcriptomes and/or genomic variations in tissues while preserving spatial information about the tissue.