METHODS FOR ASSESSING RISK OF DISEASE OCCURRENCE OR RECURRENCE USING EXPRESSION LEVEL AND SEQUENCE VARIANT INFORMATION

Japanese Patent JP2022050571

A

To provide methods for assessing or stratifying risk of disease occurrence and/or recurrence.SOLUTION: There is provided a method comprising: (a) obtaining an expression level corresponding to each one or more genes of a first set of genes in a nucleic acid sample in a needle aspirate sample obtained from the subject; (b) determining a presence of a nucleic acid sequence corresponding to each of one or more genes of a second set of genes in the nucleic acid sample; (c) separately comparing the subject with the obtained expression level and the obtained nucleic acid sequence to provide comparisons of the expression level and the nucleic acid sequence to the subject, a comparison of the nucleic acid sequence to a reference sequence in the subject being indicative of a presence of one or more sequence variants with respect to a given gene of the second set of genes; and (d) using a computer processor that is programmed with a trained algorithm to analyze the comparisons and determine a risk of occurrence of the disease on the basis of the comparisons.SELECTED DRAWING: Figure 5

GIULIA C KENNEDY
MORAIMA PAGAN
LIN CHU-FANG
FANG JIN
P SEAN WALSH
MATSUZAKI HAJIME
KEVIN TRAVERS
KIM SU YEON

JP2022002016A

March 30, 2022

January 11, 2022

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VERACYTE INC

C12Q1/6813; C12M1/00; C12M1/34; C12Q1/686; C12Q1/6869

Shimizu Hatsushi
Masao Haruna
Hirotaka Yamaguchi
Shun Jinbe
Ryuichi Inoue
Toshimitsu Sato
Koichi Niimi
Tomohiko Kobayashi
Hideki Kodera
Masato Ozeki
Kazuya Kawamoto

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