PRODUCTS AND METHODS FOR ANNOTATING GENE FUNCTION USING LOCALLY HAPLOID, HUMAN NON-CANCER CELLS

Genetic variation is a key determinant of disease risk and can significantly impact diagnosis, prognosis and treatment outcome from patient to patient. The present disclosure relates to products and methods for functionally annotating genes using local haploid, non-cancer human cells, and for determ...

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Hauptverfasser: BARTKE, Rebecca, LI, Hanqin, HOCKEMEYER, Dirk
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creator BARTKE, Rebecca
LI, Hanqin
HOCKEMEYER, Dirk
description Genetic variation is a key determinant of disease risk and can significantly impact diagnosis, prognosis and treatment outcome from patient to patient. The present disclosure relates to products and methods for functionally annotating genes using local haploid, non-cancer human cells, and for determining if gene variants are clinically actionable. Une variation génétique est un déterminant clé d'un risque de maladie et peut considérablement impacter un diagnostic, un pronostic et les résultats d'un traitement d'un patient à un autre patient. La présente invention concerne des produits et des procédés pour annoter de manière fonctionnelle des gènes à l'aide de cellules humaines non cancéreuses haploïdes locales, et pour déterminer si des variants de gènes sont cliniquement exploitables.
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subjects AGRICULTURE
ANIMAL HUSBANDRY
BEER
BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS THEREOF
CULTURE MEDIA
ENZYMOLOGY
FISHING
FORESTRY
HUMAN NECESSITIES
HUNTING
HYGIENE
MEDICAL OR VETERINARY SCIENCE
METALLURGY
MICROBIOLOGY
MICROORGANISMS OR ENZYMES
MUTATION OR GENETIC ENGINEERING
NEW PLANTS OR PROCESSES FOR OBTAINING THEM
PLANT REPRODUCTION BY TISSUE CULTURE TECHNIQUES
PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS
SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS
SPIRITS
TRAPPING
VINEGAR
WINE
title PRODUCTS AND METHODS FOR ANNOTATING GENE FUNCTION USING LOCALLY HAPLOID, HUMAN NON-CANCER CELLS
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