(19)
(11) EP 4 413 575 A1

(12)

(43) Date of publication:
14.08.2024 Bulletin 2024/33

(21) Application number: 22800024.6

(22) Date of filing: 05.10.2022
(51) International Patent Classification (IPC): 
G16B 20/20(2019.01)
(52) Cooperative Patent Classification (CPC):
G16B 20/20
(86) International application number:
PCT/US2022/045823
(87) International publication number:
WO 2023/059750 (13.04.2023 Gazette 2023/15)
(84) Designated Contracting States:
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 ME MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated Extension States:
BA
Designated Validation States:
KH MA MD TN

(30) Priority: 06.10.2021 US 202163253122 P
19.11.2021 US 202163281579 P
19.11.2021 US 202163281592 P
22.11.2021 US 202117533091
26.09.2022 US 202217953286
26.09.2022 US 202217953293

(71) Applicant: Illumina, Inc.
San Diego, CA 92122 (US)

(72) Inventors:
  • HAMP, Tobias
    Cambridge CB21 6DF (GB)
  • GAO, Hong
    San Diego, California 92122 (US)
  • FARH, Kai-How
    San Diego, California 92122 (US)

(74) Representative: Lever, Melissa Jayne 
Marks & Clerk LLP 2nd Floor Wytham Court 11 West Way
Oxford OX2 0JB
Oxford OX2 0JB (GB)

   


(54) COMBINED AND TRANSFER LEARNING OF A VARIANT PATHOGENICITY PREDICTOR USING GAPPED AND NON-GAPPED PROTEIN SAMPLES