WO2014121091 METHODS FOR GENOME ASSEMBLY AND HAPLOTYPE PHASING

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Publication Number WO/2014/121091

Publication Date 07.08.2014

International Application No. PCT/US2014/014184

International Filing Date 31.01.2014

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CPC

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Applicants

THE REGENTS OF THE UNIVERSITY OF CALIFORNIA [US]/[US]

Inventors

GREEN, Richard, E. Jr.
LAREAU, Liana, F.

Agents

BAKER, Joseph, R. Jr.

Priority Data

61/759,941		01.02.2013		US
61/892,355		17.10.2013		US

Publication Language English (en)

Filing Language English (EN)

Designated States

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Title

(EN) METHODS FOR GENOME ASSEMBLY AND HAPLOTYPE PHASING

(FR) PROCÉDÉS POUR ASSEMBLAGE DU GÉNOME ET PHASAGE D'HAPLOTYPE

Abstract

(EN) The disclosure provides methods for greatly accelerating and improving de novo genome assembly. The methods disclosed herein utilize methods for data analysis that allow for rapid and inexpensive de novo assembly of genomes from one or more subjects. The disclosure further provides that the methods disclosed herein can be used in a variety of applications, including haplotype phasing, and metagenomics analysis.

(FR) La présente invention concerne des procédés qui permettent d'accélérer et d'améliorer fortement l'assemblage du génome de novo. Les procédés de la présente invention utilisent des procédés pour l'analyse de données qui permet l'assemblage rapide et peu coûteux de novo de génomes provenant d'un ou de plusieurs sujets. L'invention concerne en outre des procédés qui peuvent être utilisés dans une variété d'applications, comprenant le phasage d'haplotype et l'analyse métagénomique.

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68	involving nucleic acids
6869	Methods for sequencing

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68	involving nucleic acids
6876	Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6888	for detection or identification of organisms

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2521	Reaction characterised by the enzymatic activity
30	Phosphoric diester hydrolysing, i.e. nuclease
301	Endonuclease

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1. WO2014121091 - METHODS FOR GENOME ASSEMBLY AND HAPLOTYPE PHASING

G	PHYSICS
16	INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
B	BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30	ICT specially adapted for sequence analysis involving nucleotides or amino acids

G	PHYSICS
16	INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
C	COMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE
20	Chemoinformatics, i.e. ICT specially adapted for the handling of physicochemical or structural data of chemical particles, elements, compounds or mixtures
60	In silico combinatorial chemistry