Title:
SYSTEMS AND METHODS FOR LEVERAGING RELATEDNESS IN GENOMIC DATA ANALYSIS
Document Type and Number:
Japanese Patent JP2023103325
Kind Code:
A
Abstract:
To provide systems and methods for leveraging relatedness in genomic data analysis.SOLUTION: Methods, non-transitory computer-implemented methods and systems for identifying compound heterozygous mutations (CHMs) and de novo mutations (DNMs) in populations are provided. Also provided are methods for phasing genetic variants in a population by leveraging the populations relatedness. Further provided is a prediction model of relatedness in a human population.SELECTED DRAWING: Figure 1
Inventors:
JEFFREY STAPLES
LUKAS HABEGGER
JEFFREY REID
LUKAS HABEGGER
JEFFREY REID
Application Number:
JP2023076708A
Publication Date:
July 26, 2023
Filing Date:
May 08, 2023
Export Citation:
Assignee:
REGENERON PHARMA
International Classes:
C12Q1/68; C12M1/34; C12Q1/6869; G16B20/00
Attorney, Agent or Firm:
Makoto Onda
Hironobu Onda
Atsushi Honda
Miki Nakamura
Hironobu Onda
Atsushi Honda
Miki Nakamura