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1. WO2022165430 - STRUCTURAL VARIANT EVALUATION THROUGH ITERATIVE GENOME CONSTRUCTION

Publication Number WO/2022/165430
Publication Date 04.08.2022
International Application No. PCT/US2022/014764
International Filing Date 01.02.2022
IPC
G16B 30/10 2019.1
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30ICT specially adapted for sequence analysis involving nucleotides or amino acids
10Sequence alignment; Homology search
CPC
G16B 30/10
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30ICT specially adapted for sequence analysis involving nucleotides or amino acids
10Sequence alignment; Homology search
Applicants
  • GOOGLE LLC [US]/[US]
Inventors
  • BASHIR, Ali
  • SHAMSI, Zahra
  • QIAN, Wesley, Wei
  • IE, Tze, Way Eugene
  • CHAN, Jeffrey
  • BERNDL, Marc
  • MLADENOV, Martin
  • LANSING, Larry
Agents
  • RELLINGER, Benjamin, A.
Priority Data
63/144,23501.02.2021US
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) STRUCTURAL VARIANT EVALUATION THROUGH ITERATIVE GENOME CONSTRUCTION
(FR) ÉVALUATION DE VARIANTS STRUCTURAUX PAR CONSTRUCTION ITÉRATIVE DE GÉNOME
Abstract
(EN) A method is provided for determining a sample genome from a plurality of read fragments and a reference genome. The method includes: (i) applying a first putative variant event, selected from a set of candidate variant events, to the sample genome to update the sample genome; (ii) mapping the plurality of read fragments to the updated sample genome; (hi) based on the mapping of the plurality of read fragments to the updated sample genome, determining a first read mapping cost function; and (iv) based on the first read mapping cost function, retaining the updated sample genome and removing the first putative variant event from the set of candidate variant events.
(FR) L'invention concerne un procédé de détermination d'un génome échantillon à partir d'une pluralité de fragments de lecture et d'un génome de référence. Le procédé comprend : (I) appliquer un premier événement de variant putatif, choisi parmi un ensemble d'événements de variants candidats, au génome échantillon pour mettre à jour le génome échantillon ; (ii) mettre en correspondance la pluralité de fragments de lecture avec le génome échantillon mis à jour ; (iii) sur la base de la mise en correspondance de la pluralité de fragments de lecture avec le génome échantillon mis à jour, déterminer une première fonction de coût de mise en correspondance de lecture ; et (iv) sur la base de la première fonction de coût de mise en correspondance de lecture, retenir le génome échantillon mis à jour et retirer le premier événement de variant putatif de l'ensemble d'événements de variants candidats.
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