Global Patent Index - EP 4323991 A1

EP 4323991 A1 20240221 - MULTI-CHANNEL PROTEIN VOXELIZATION TO PREDICT VARIANT PATHOGENICITY USING DEEP CONVOLUTIONAL NEURAL NETWORKS

Title (en)

MULTI-CHANNEL PROTEIN VOXELIZATION TO PREDICT VARIANT PATHOGENICITY USING DEEP CONVOLUTIONAL NEURAL NETWORKS

Title (de)

MEHRKANAL-PROTEINVOXELISIERUNG ZUR VORHERSAGE VON VARIANTENPATHOGENITÄT UNTER VERWENDUNG TIEFER KONVOLUTIONALER NEURONALER NETZE

Title (fr)

VOXELISATION DE PROTÉINE À CANAUX MULTIPLES POUR PRÉDIRE UNE PATHOGÉNICITÉ D'UN VARIANT À L'AIDE DE RÉSEAUX NEURONAUX CONVOLUTIFS PROFONDS

Publication

EP 4323991 A1 20240221 (EN)

Application

EP 22726207 A 20220414

Priority

  • US 202163175495 P 20210415
  • US 202163175767 P 20210416
  • US 202217703935 A 20220324
  • US 202217703958 A 20220324
  • US 2022024916 W 20220414

Abstract (en)

[origin: WO2022221591A1] A system includes at least a voxelizer, an alternative allele encoder, an evolutionary conservation encoder, and a convolutional neural network. The voxelizer accesses a three-dimensional structure of a reference amino acid sequence of a protein and fits a three-dimensional grid of voxels on atoms in the three-dimensional structure on an amino acid-basis to generate amino acid-wise distance channels. The alternative allele encoder encodes an alternative allele sequence to each voxel in the three-dimensional grid of voxels. The evolutionary conservation encoder encodes an evolutionary conservation sequence to each voxel in the three-dimensional grid of voxels. The convolutional neural network applies three-dimensional convolutions to a tensor that includes the amino acid-wise distance channels encoded with the alternative allele sequence and respective evolutionary conservation sequences and determines a pathogenicity of a variant nucleotide based at least in part on the tensor.

IPC 8 full level

G16B 15/00 (2019.01); G16B 20/00 (2019.01); G16B 40/20 (2019.01)

CPC (source: EP IL KR)

G06N 3/044 (2023.01 - IL KR); G06N 3/045 (2023.01 - EP IL KR); G06N 3/084 (2013.01 - IL KR); G16B 15/00 (2019.02 - EP IL KR); G16B 20/00 (2019.02 - EP IL KR); G16B 30/00 (2019.02 - KR); G16B 40/20 (2019.02 - EP IL KR); G06N 3/044 (2023.01 - EP); G06N 3/084 (2013.01 - EP)

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 2022221591 A1 20221020; AU 2022258691 A1 20231026; AU 2022259667 A1 20231026; BR 112023021266 A2 20231212; BR 112023021343 A2 20231219; CA 3215514 A1 20221020; CA 3215520 A1 20221020; EP 4323989 A1 20240221; EP 4323991 A1 20240221; IL 307661 A 20231201; IL 307667 A 20231201; JP 2024513995 A 20240327; KR 20230170679 A 20231219; KR 20230170680 A 20231219; WO 2022221593 A1 20221020

DOCDB simple family (application)

US 2022024916 W 20220414; AU 2022258691 A 20220414; AU 2022259667 A 20220414; BR 112023021266 A 20220414; BR 112023021343 A 20220414; CA 3215514 A 20220414; CA 3215520 A 20220414; EP 22720250 A 20220414; EP 22726207 A 20220414; IL 30766123 A 20231011; IL 30766723 A 20231011; JP 2023563033 A 20220414; KR 20237034824 A 20220414; KR 20237034825 A 20220414; US 2022024918 W 20220414