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1. (WO2017196728) METHODS OF DETERMINING GENOMIC HEALTH RISK
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Pub. No.: WO/2017/196728 International Application No.: PCT/US2017/031559
Publication Date: 16.11.2017 International Filing Date: 08.05.2017
IPC:
G06F 19/18 (2011.01) ,G06F 19/22 (2011.01) ,G06F 19/24 (2011.01) ,G06F 19/26 (2011.01)
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18
for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
24
for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
26
for data visualisation, e.g. graphics generation, display of maps or networks or other visual representations
Applicants: HUMAN LONGEVITY, INC.[US/US]; 4570 Executive Drive San Diego, California 92121, US
Inventors: DI IULIO, Julia; US
TELENTI, Amalio; US
Agent: NOVAK, Jason, J.; US
BURKETTE, Scott L.; US
WHEELER, Matthew; US
Priority Data:
62/333,65309.05.2016US
62/410,78320.10.2016US
Title (EN) METHODS OF DETERMINING GENOMIC HEALTH RISK
(FR) PROCÉDÉS DE DÉTERMINATION D'UN RISQUE POUR LA SANTÉ GÉNOMIQUE
Abstract:
(EN) Described are genomic health risk metrics elaborated herein to hold significant advantages for the health care industry. The likelihood that any given GSV will be deleterious is relatively small. Since every human genome sequenced may result in several million GSVs, the advantage of a genomic health risk metric such as a tolerability score, an n-mer score, a context dependent tolerance score, or a protein tolerability score to clinicians is that it will allow them to focus on and prioritize deleterious mutations.
(FR) L'invention concerne des mesures d'un risque pour la santé génomique permettant de conserver des avantages significatifs pour l'industrie des soins de santé. La probabilité, selon laquelle toute valeur de GSV est délétère, est relativement faible. Comme chaque génome humain séquencé peut conduire à plusieurs millions de GSV, l'avantage pour les cliniciens d'une mesure d'un risque pour la santé génomique, telle qu'un score de tolérabilité, un score de n-mères, un score de tolérance dépendant du contexte, ou un score de tolérabilité des protéines, est qu'elle leur permettra de se concentrer et de classer des mutations délétères.
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Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)