EP 4107732 A1 20221228 - METHODS AND SYSTEMS FOR A LIQUID BIOPSY ASSAY
Title (en)
METHODS AND SYSTEMS FOR A LIQUID BIOPSY ASSAY
Title (de)
VERFAHREN UND SYSTEME FÜR EINEN FLÜSSIGBIOPSIETEST
Title (fr)
PROCÉDÉS ET SYSTÈMES DE DOSAGE DE BIOPSIE DE LIQUIDE
Publication
Application
Priority
- US 202062978130 P 20200218
- US 202063041424 P 20200619
- US 202063041293 P 20200619
- US 202063041272 P 20200619
- US 2021018622 W 20210218
Abstract (en)
[origin: WO2021168146A1] Methods, systems, and software are provided for validating a copy number variation, validating a somatic sequence variant, and/or determining circulating tumor fraction estimates using on-target and off-target sequence reads in a test subject. A copy number status annotation for a genomic segment is validated by applying a first dataset to a plurality of filters comprising a measure of central tendency bin-level sequence ratio filter, a confidence filter, and a measure of central tendency-plus-deviation bin-level sequence ratio filter. A somatic sequence variant is validated by comparing a variant allele fragment count for a candidate somatic sequence variant for a respective locus, against a dynamic variant count threshold for the locus in a respective reference sequence. A circulating tumor fraction is estimated based on a measure of fit between genomic segment-level coverage ratios and integer copy states across a plurality of simulated circulated tumor fractions.
IPC 8 full level
G16B 20/10 (2019.01)
CPC (source: EP)
G16B 20/10 (2019.01); G16B 30/00 (2019.01); G16H 50/20 (2017.12)
Citation (search report)
See references of WO 2021168146A1
Designated contracting state (EPC)
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated extension state (EPC)
BA ME
Designated validation state (EPC)
KH MA MD TN
DOCDB simple family (publication)
WO 2021168146 A1 20210826; AU 2021224670 A1 20220901; CA 3167253 A1 20210826; EP 4107732 A1 20221228
DOCDB simple family (application)
US 2021018622 W 20210218; AU 2021224670 A 20210218; CA 3167253 A 20210218; EP 21711691 A 20210218