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Cruchaga et al., 2014 - Google Patents

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Cruchaga et al., 2014

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Document ID
8537838813466194800
Author
Cruchaga C
Karch C
Jin S
Benitez B
Cai Y
Guerreiro R
Harari O
Norton J
Budde J
Bertelsen S
Jeng A
Cooper B
Skorupa T
Carrell D
Levitch D
Hsu S
Choi J
Ryten M
UK Brain Expression Consortium (UKBEC) Hardy John 3 Ryten Mina 3 Trabzuni Daniah 3 Weale Michael E. 30 Ramasamy Adaikalavan 30 Smith Colin 31
Sassi C
Bras J
Gibbs J
Hernandez D
Lupton M
Powell J
Forabosco P
Ridge P
Corcoran C
Tschanz J
Norton M
Munger R
Schmutz C
Leary M
Demirci F
Bamne M
Wang X
Lopez O
Ganguli M
Medway C
Turton J
Lord J
Braae A
Barber I
Brown K
Alzheimer’s Research UK (ARUK) Consortium Passmore Peter 32 Craig David 32 Johnston Janet 32 McGuinness Bernadette 32 Todd Stephen 32 Heun Reinhard 33 Kölsch Heike 34 Kehoe Patrick G. 35 Hooper Nigel M. 36 Vardy Emma RLC 37 Mann David M. 38 Pickering-Brown Stuart 38 Brown Kristelle 18 Kalsheker Noor 18 Lowe James 18 Morgan Kevin 18 David Smith A. 39 Wilcock Gordon 39 Warden Donald 39 Holmes Clive 39
Pastor P
Lorenzo-Betancor O
Brkanac Z
Scott E
Topol E
Morgan K
Rogaeva E
Singleton A
Hardy J
Kamboh M
St George-Hyslop P
Cairns N
Morris J
Kauwe J
Goate A
Publication year
Publication venue
Nature

External Links

Snippet

Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD),. These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding …
Continue reading at www.ncbi.nlm.nih.gov (HTML) (other versions)

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    • C—CHEMISTRY; METALLURGY
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
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    • C12Q2600/00—Oligonucleotides characterized by their use
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    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology 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
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q2600/00—Oligonucleotides characterized by their use
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    • G—PHYSICS
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    • G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
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