(19)
(11) EP 4 323 990 A1

(12)

(43) Date of publication:
21.02.2024 Bulletin 2024/08

(21) Application number: 22721220.6

(22) Date of filing: 14.04.2022
(51) International Patent Classification (IPC): 
G16B 15/00(2019.01)
G16B 40/20(2019.01)
 G16B 20/00(2019.01)
(52) Cooperative Patent Classification (CPC):
G16B 20/00; G16B 15/00; G16B 40/20
(86) International application number:
PCT/US2022/024913
(87) International publication number:
WO 2022/221589 (20.10.2022 Gazette 2022/42)
(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 MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated Extension States:
BA ME
Designated Validation States:
KH MA MD TN

(30) Priority: 15.04.2021 US 202117232056
15.04.2021 US 202163175495 P
16.04.2021 US 202163175767 P
07.09.2021 US 202117468411
24.03.2022 US 202217703935
24.03.2022 US 202217703958

(71) Applicants:
  • Illumina, Inc.
    San Diego, CA 92122 (US)
  • Illumina Cambridge Limited
    Cambridge CB21 6DF (GB)

(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: Robinson, David Edward Ashdown 
Marks & Clerk LLP 1 New York Street
Manchester M1 4HD
Manchester M1 4HD (GB)

   


(54) DEEP CONVOLUTIONAL NEURAL NETWORKS TO PREDICT VARIANT PATHOGENICITY USING THREE-DIMENSIONAL (3D) PROTEIN STRUCTURES