EP4732284A1 - Verfahren und system zur schätzung der auswirkung von mutationen auf fitness, lebensdauer und fruchtbarkeit - Google Patents

Verfahren und system zur schätzung der auswirkung von mutationen auf fitness, lebensdauer und fruchtbarkeit

Info

Publication number
EP4732284A1
EP4732284A1 EP24742768.5A EP24742768A EP4732284A1 EP 4732284 A1 EP4732284 A1 EP 4732284A1 EP 24742768 A EP24742768 A EP 24742768A EP 4732284 A1 EP4732284 A1 EP 4732284A1
Authority
EP
European Patent Office
Prior art keywords
selection
individual
mutations
burden
lifespan
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
EP24742768.5A
Other languages
English (en)
French (fr)
Inventor
Hong Gao
Joshua Goodwin Jon McMaster-Schraiber
Jacob Christopher ULIRSCH
Kai-How FARH
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Illumina Inc
Original Assignee
Illumina Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of EP4732284A1 publication Critical patent/EP4732284A1/de
Pending legal-status Critical Current

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment

Landscapes

  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Public Health (AREA)
  • Biotechnology (AREA)
  • Theoretical Computer Science (AREA)
  • Epidemiology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Databases & Information Systems (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Data Mining & Analysis (AREA)
  • Pathology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Biomedical Technology (AREA)
  • Artificial Intelligence (AREA)
  • Chemical & Material Sciences (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
EP24742768.5A 2023-06-23 2024-06-20 Verfahren und system zur schätzung der auswirkung von mutationen auf fitness, lebensdauer und fruchtbarkeit Pending EP4732284A1 (de)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202363509961P 2023-06-23 2023-06-23
US202363600952P 2023-11-20 2023-11-20
PCT/US2024/034840 WO2024263794A1 (en) 2023-06-23 2024-06-20 Method and system for estimating impact of mutations on fitness, lifespan, and fecundity

Publications (1)

Publication Number Publication Date
EP4732284A1 true EP4732284A1 (de) 2026-04-29

Family

ID=91946390

Family Applications (1)

Application Number Title Priority Date Filing Date
EP24742768.5A Pending EP4732284A1 (de) 2023-06-23 2024-06-20 Verfahren und system zur schätzung der auswirkung von mutationen auf fitness, lebensdauer und fruchtbarkeit

Country Status (2)

Country Link
EP (1) EP4732284A1 (de)
WO (1) WO2024263794A1 (de)

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115715415A (zh) 2020-07-23 2023-02-24 因美纳有限公司 变体致病性评分和分类及其用途
IL299045A (en) 2020-07-23 2023-02-01 Illumina Inc Scoring and sorting of the pathogenicity of variants and their use

Also Published As

Publication number Publication date
WO2024263794A1 (en) 2024-12-26

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