Methods for generating databases and databases for identifying polymorphic genetic markers
원문보기
IPC분류정보
국가/구분
United States(US) Patent
등록
국제특허분류(IPC7판)
G06F-019/10
G06F-019/00
G01N-024/00
C12Q-001/68
출원번호
US-0536807
(2012-06-28)
등록번호
US-8818735
(2014-08-26)
발명자
/ 주소
Braun, Andreas
Köster, Hubert
Van Den Boom, Dirk Johannes
Yip, Ping
Rodi, Charles
He, Liyan
Chiu, Norman
Jurinke, Christian
출원인 / 주소
Sequenom, Inc.
대리인 / 주소
Grant IP, Inc.
인용정보
피인용 횟수 :
0인용 특허 :
221
초록
Processes and methods for creating a database of genomic samples from healthy human donors, methods that use the database to identify and correlate polymorphic genetic markers and other markers with diseases and conditions are provided.
대표청구항▼
1. A method for determining whether a polymorphism correlates with susceptibility to morbidity, early mortality, or morbidity and early mortality, comprising: identifying a polymorphism, wherein said polymorphism has not previously been correlated with susceptibility to morbidity, early mortality, o
1. A method for determining whether a polymorphism correlates with susceptibility to morbidity, early mortality, or morbidity and early mortality, comprising: identifying a polymorphism, wherein said polymorphism has not previously been correlated with susceptibility to morbidity, early mortality, or morbidity and early mortality;obtaining samples from healthy individuals within more than one age range;pooling the samples from healthy individuals within each age range, wherein healthy individuals are selected only on the basis of being healthy;determining the frequency of the identified polymorphism in each sample pool using mass spectrometry, which includes identifying the appearance or disappearance of the polymorphism with increasing age; andcorrelating said frequency of the appearance or disappearance of the polymorphism with increasing age in the healthy population with susceptibility to morbidity, early mortality, or morbidity and early mortality in said healthy population. 2. The method of claim 1, wherein the frequency of the polymorphism in said samples is in a database, and said database is sorted to identify correlations between the frequency of said polymorphism in older and younger populations. 3. The method of claim 1, wherein the polymorphism comprises a SNP. 4. The method of claim 1, further comprising identifying the locus of said polymorphism and assessing or deducing the function of a gene at said locus. 5. The method of claim 1, wherein said sample comprises body tissue or fluid from said individual. 6. The method of claim 1, wherein said sample comprises DNA. 7. The method of claim 1, wherein said method comprises obtaining genomic nucleic acid from a sample from a healthy individual. 8. The method of claim 1, further comprising amplifying a portion of the genomic nucleic acid to produce amplified fragments thereof. 9. The method of claim 1, wherein the polymorphism is identified by a method comprising primer oligo base extension. 10. The method of claim 9, wherein the primer oligo base extension comprises hybridizing a nucleic acid molecule from a sample from a healthy individual with a primer oligonucleotide that is complementary to the nucleic acid molecule at a site adjacent to the polymorphic marker. 11. The method of claim 9, further comprising optionally immobilizing the nucleic acid molecule onto a solid support, to produce an immobilized nucleic acid molecule; contacting the optionally-immobilized nucleic acid molecule with a composition comprising a dideoxynucleoside triphosphate or a 3′-deoxynucleoside triphosphate and a polymerase, so that only a dideoxynucleoside or 3′-deoxynucleoside triphosphate that is complementary to the polymorphic marker is extended onto the primer; and detecting the extended primer, thereby identifying the polymorphism. 12. The method of claim 1, wherein the polymorphism is identified by a method comprising: identifying samples by sorting a database comprising datapoints representative of a plurality of individuals from whom biological samples are obtained, wherein each datapoint is associated with data representative of the organism type and other identifying information, wherein said database is sorted according to a selected parameter to identify samples that match the selected parameter;isolating a nucleic acid molecule from each identified sample;pooling each isolated nucleic acid molecule; andidentifying the polymorphism in the nucleic acid molecule by a method comprising primer oligo base extension. 13. The method of claim 1, wherein the polymorphism is identified by a method comprising: identifying samples by sorting a database comprising datapoints representative of a plurality of individuals from whom biological samples are obtained, wherein each datapoint is associated with data representative of the organism type and other identifying information, wherein said database is sorted according to a selected parameter to identify samples that match the selected parameter;isolating a biopolymer from each identified sample;pooling each isolated biopolymer;cleaving the pooled biopolymers to produce fragments thereof;obtaining a mass spectrum of the resulting fragments and comparing the mass spectrum with a control mass spectrum to identify differences between the spectra and thereby identifying any polymorphisms; wherein:the control mass spectrum is obtained from either samples represented by datapoints in said database that were not selected by sorting said database; orsamples identified by sorting said database according to a different selected parameter. 14. The method of claim 1, wherein the samples are pooled within an age range and within a gender. 15. The method of claim 14, wherein the appearance or disappearance of a polymorphism is identified with increasing age within one gender and not within the other. 16. The method of claim 15, wherein the appearance or disappearance of the polymorphism is correlated with susceptibility to morbidity, early mortality, or morbidity and early mortality in males and not females. 17. The method of claim 15, wherein the appearance or disappearance of the polymorphism is correlated with susceptibility to morbidity, early mortality, or morbidity and early mortality in females and not males.
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이 특허에 인용된 특허 (221)
Buhr Chris A. (Daly City CA) Matteucci Mark (Burlingame CA), 2\modified nucleoside and nucleotide compounds.
Cook Philip D. (Carlsbad CA) Delecki Daniel J. (Radnor PA) Guinosso Charles (Vista CA), Acyclic nucleoside analogs and oligonucleotide sequences containing them.
Summerton James E. (Corvallis OR) Weller Dwight D. (Corvallis OR) Stirchak Eugene P. (Corvallis OR), Alpha-morpholino ribonucleoside derivatives and polymers thereof.
Skelton Dale J. (Plano TX) Ling Kuok Y. (Webster TX) Manternach Myron G. (Houston TX), Analog control of inductive flyback voltages in a full bridge circuit.
McGall Glenn Hugh ; Miyada Charles Garrett ; Cronin Maureen T. ; Tan Jennifer Dee ; Chee Mark S., Arrays of modified nucleic acid probes and methods of use.
Chee Mark ; Cronin Maureen T. ; Fodor Stephen P. A. ; Huang Xiaohua X. ; Hubbell Earl A. ; Lipshutz Robert J. ; Lobban Peter E. ; Morris MacDonald S. ; Sheldon Edward L., Arrays of nucleic acid probes on biological chips.
Pang Wing S. ; Gross Mark ; Tanumihardja Hendra ; Rauskolb Ruediger F. ; Pedrazzini G. Andrea,ITX ; Allen Santiago F., Automated sample processing system including automatic centrifuge device.
Cook Phillip D. (Carlsbad CA) Sanghvi Yogesh S. (San Marcos CA) Vasseur Jean J. (San Marcos CA) Debart Francoise (Montpellier FRX), Backbone modified oligonucleotide analogues.
Sanghvi Yogesh S. (San Marcos CA) Cook Phillip D. (Vista CA), Backbone-modified oligonucleotide analogs and preparation thereof through radical coupling.
Danho Waleed (Wayne NJ) Nelson David J. (Nutley NJ) Olson Gary L. (Westfield NJ) Shiuey Shian-Jan (Nutley NJ) Tilley Jefferson W. (North Caldwell NJ) Wagner Rolf (Waukegan IL), CCK analogs with appetite regulating activity.
Altmann Karl-Heinz (Basel CHX) Imwinkelried Rene (Brig-Glis CHX) Eschenmoser Albert (Kusnacht CHX), Carbocyclic nucleosides containing bicyclic rings, oligonucleotides therefrom, process for their preparation, their use.
Altmann Karl-Heinz (Basel CHX) Imwinkelried Rene (Brig-Glis CHX) Eschenmoser Albert (Kusnacht CHX), Carbocyclic nucleosides containing bicyclic rings, oligonucleotides therefrom, process for their preparation, their use.
Kaiser Michael W. ; Lyamichev Victor I. ; Lyamichev Natasha, Cleavage of nucleic acid acid using thermostable methoanococcus jannaschii FEN-1 endonucleases.
Bertsch-Frank Birgit (Rheinfelden DEX) Klasen Claas-Juergen (Freigericht DEX) Lieser Thomas (Hapau DEX) Mueller Klaus (Hasselroth DEX) Bewersdorf Martin (Gelnhausen DEX), Coated sodium percarbonate particles, a process for their production and detergent, cleaning and bleaching compositions.
Ohtsuka Eiko (Sappro JPX) Inoue Hideo (Sappro JPX) Morisawa Hirokazu (Kawasaki JPX) Shibahara Susumu (Kawasaki JPX) Mukai Sachiko (Kawasaki JPX) Nishihara Tohru (Kurashiki JPX), Compounds for the cleavage at a specific position of RNA, oligomers employed for the formation of said compounds, and st.
Hubert Koster ; Kai Tang ; Dong-Jing Fu ; Carsten W. Siegert DE; Daniel P. Little ; Andreas Braun ; Brigitte Darnhofer-Demar DE; Christian Jurinke DE; Dirk Van den Boom DE, DNA diagnostics based on mass spectrometry.
Fleischmann Robert David ; White Owen Richardson ; Fraser Claire Marie ; Venter John Craig, DNA sequences for strain analysis in Mycobacterium tuberculosis.
Fraiser Melinda S. (Durham NC) Walker George T. (Chapel Hill NC) Schram James L. (Knightdale NC), Decontamination of nucleic acid amplification reactions using uracil-N-glycosylase (UDG).
Tsien Roger Y. (La Jolla CA) Taylor Susan S. (Del Mar CA) Adams Stephen R. (Poway CA) Ji Ying (San Diego CA), Detection of analytes using fluorescent energy transfer.
Acton Susan Laurene ; Ordovas Jose M., Diagnostic assays and kits for body mass disorders associated with a polymorphism in an intron sequence of the SR-BI gene.
Baxter Anthony D. (Northwich GB2) Baylis Eric K. (Stockport GB2) Collingwood Stephen P. (Westhoughton GB2) Taylor Roger J. (Stretford GB2) De Mesmaeker Alain (Kanerkinden CHX) Schmit Chantal (Basel C, Dinucleoside phosphinates and their pharmaceutical compositions.
Okasinski Gregory F. ; Schaefer Verlyn G. ; Suhar Thomas S. ; Lesniewski Richard R., Hepatitis C virus second envelope (HCV-E2) glycoprotein expression system.
Kercso Joseph E. ; Sundberg Steven A. ; Wolk Jeffrey A. ; Toth Andrew W. ; Chow Calvin Y. H. ; Parce J. Wallace, High throughput microfluidic systems and methods.
Endege Wilson O. ; Steinmann Kathleen E. ; Astle Jon H. ; Burgess Christopher C. ; Carroll ; III Eddie ; Catino Theodore J. ; Dwivedi Poornima ; Ford Donna M. ; Lewis Marcia E. ; Molino Gary A. ; Mon, Human genes and expression products: II.
Nikiforov Theo ; Karn Jonathan,GBX ; Goelet Philip, Ligase/polymerase-mediated genetic bit analysis of single nucleotide polymorphisms and its use in genetic analysis.
Kang Changwon,KRX ; Kwon Young-Soo,KRX ; Kim Young Tae,KRX ; Koster Hubert ; Little Daniel P. ; Little Maryanne J. ; Xiang Guobing ; Lough David M.,GBX ; Cantor Charles, Mass spectrometric methods for sequencing nucleic acids.
Amirav Aviv (58 Bialik Avenue Ramat Hasharon 47205 ILX) Dagan Shai (Ramat Gan ILX), Method and device for the introduction of a sample into a gas chromatograph.
Green Ronald J.,CAX ; Chi Vrijmoed,CAX ; Gilchrist Rodney D.,CAX ; Dee Gregory,CAX ; Stevens John K.,CAX, Method and system for DNA sequence determination and mutation detection with reference to a standard.
Soderlund Hans E.,FIX ; Syvanen Anne-Christine,FIX, Method for determining specific nucleotide variations by primer extension in the presence of mixture of labeled nucleotides and terminators.
Labowsky Michael J. (67 Howe Ave. Wayne NJ 07470), Method for eliminating noise and artifact peaks in the deconvolution of multiply charged mass spectra.
Stevens John K.,CAX ; Dunn James M.,CAX ; Leushner James,CAX ; Green Ronald J.,CAX, Method for evaluation of polymorphic genetic sequences, and the use thereof in identification of HLA types.
Grossman Paul D. (Burlingame CA) Fung Steven (Palo Alto CA) Menchen Steven M. (Fremont CA) Woo Sam L. (Redwood City CA) Winn-Deen Emily S. (Foster City CA), Method of DNA sequencing employing a mixed DNA-polymer chain probe.
Herman James G. ; Baylin Stephen B., Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguish modified methylated and non-methylated nucleic acids.
Herman James G. ; Baylin Stephen B., Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modifi.
Herman James G. ; Baylin Stephen B., Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modified methylated and non-methylated nucleic acids.
Drmanac Radoje T. (Beograd YUX) Crkvenjakov Radomir B. (Beograd YUX), Method of determining an ordered sequence of subfragments of a nucleic acid fragment by hybridization of oligonucleotide.
Pederson Thoru (Worcester MA) Agrawal Sudhir (Shrewsbury MA) Mayrand Sandra (Shrewsbury MA) Zamecnik Paul C. (Shrewsbury MA), Method of site-specific alteration of RNA and production of encoded polypeptides.
Pederson Thoru (Worcester MA) Agrawal Sudhir (Shrewsbury MA) Mayrand Sandra (Shrewsbury MA) Zamecnik Paul C. (Shrewsbury MA), Method of site-specific alteration of RNA and production of encoded polypeptides.
Pederson Thoru (Worcester MA) Agrawal Sudhir (Shrewsbury MA) Mayrand Sandra (Shrewsbury MA) Zamecnik Paul C. (Shrewsbury MA), Method of site-specific alteration of RNA and production of encoded polypeptides.
Walder Joseph A. (Iowa City IA) Walder Roxanne Y. (Iowa City IA) Eder Paul S. (Iowa City IA) Dagle John M. (Iowa City IA), Methods for blocking the expression of specifically targeted genes.
Matteucci Mark (Burlingame CA) Jones Robert J. (Daly City CA) Munger John (San Francisco CA), Modified internucleoside linkages having one nitrogen and two carbon atoms.
Davis Frank F. (19 Farmingdale Rd. East Brunswick NJ 08816) Van Es Theodorus (313 Overbrook Rd. Piscataway NJ 08854) Palczuk Nicholas C. (45 W. Franklin St. Bound Brook NJ 08805), Non-immunogenic polypeptides.
Walder Joseph A. (Iowa City IA) Walder Roxanne Y. (Iowa City IA), Nucleic acid hybridization and amplification method for detection of specific sequences in which a complementary labeled.
Bischofberger Norbert (San Carlos CA) Kent Ken (Mountain View CA) Wagner Rick (Burlingame CA) Buhr Chris (Daly City CA) Lin Kuei-Ying (Fremont CA), Oligonucleotide analogs capable of passive cell membrane permeation.
Weis Alexander Ludvik (Berwyn PA) Hausheer Frederick Herman (San Antonio TX) Chaturvedula Prasad Venkata Chala (Exton PA) Delecki Daniel Joseph (Radnor PA) Cavanaugh ; Jr. Paul Francis (West Chester , Oligonucleotide analogues containing phosphate diester linkage substitutes, compositions thereof, and precursor dinucleo.
Smith Lloyd M. (South Pasadena CA) Fung Steven (Palo Alto CA) Kaiser ; Jr. Robert J. (Glendale CA), Oligonucleotides possessing a primary amino group in the terminal nucleotide.
Lebleu Bernard (Montpellier FRX) Bayard Bernard (Castelnau Le Lez FRX), Oligonucleotides with modified phosphate and modified carbohydrate moieties at the respective chain termini.
Dower William J. ; Barrett Ronald W. ; Cwirla Steven E. ; Gates Christian M. ; Schatz Peter J. ; Balasubramanian Palaniappan ; Wagstrom Christopher R. ; Hendren Richard Wayne ; Deprince Randolph B. ;, Peptides and compounds that bind to a receptor.
Misiura Konrad (Lodz PLX) Gait Michael (Cambridge GB3), Phosphoramidite derivatives, their preparation and the use thereof in the incorporation of reporter groups on synthetic.
Maddry Joseph A. (Birmingham AL) Reynolds Robert C. (Birmingham AL) Secrist John A. (Birmingham AL) Montgomery John A. (Birmingham AL) Crooks Peter A. (Lexington KY), Polynucleotide analogs containing sulfonate and sulfonamide internucleoside linkages.
Urdea Michael S. (Alamo CA) Horn Thomas (Berkeley CA), Polynucleotide reagents containing modified deoxyribose moieties, and associated methods of synthesis and use.
Hillenkamp Franz (Mnster DEX) Karas Michael (Mnster DEX) Giessmann Ulrich (Bremen DEX), Process and device for the laser desorption of an analyte molecular ions, especially of biomolecules.
Mullis Kary B. (Kensington CA) Erlich Henry A. (Oakland CA) Arnheim Norman (Woodland Hills CA) Horn Glenn T. (Emeryville CA) Saiki Randall K. (Richmond CA) Scharf Stephen J. (Berkeley CA), Process for amplifying, detecting, and/or-cloning nucleic acid sequences.
Cech Thomas R. (Boulder CO) Zaug Arthur J. (Louisville CO) Been Michael D. (Boulder CO), RNA ribozyme polymerases, dephosphorylases, restriction endoribonucleases and methods.
McConnell Bain C. (Winston-Salem NC) Fix ; Sr. Robert J. (Kernersville NC) Deal Philip A. (Winston-Salem NC) Hobbs Timothy A. (Greensboro NC) Jordan Larry S. (Lexington NC) Steelman Harold L. (Yadkin, Robotic sample preparation system and method.
Hutchins Burleigh M. ; Fowler Tye B. ; Friswell David R. ; Kearsley Paul A. ; Swanson Bruce A. ; Tetreault Eugene T. ; Elands Jack,FRX, Scheduled system and method for processing chemical products.
Van Ness Jeffrey (Bothell WA) Petrie Charles R. (Woodinville WA) Tabone John C. (Bothell WA) Vermeulen Nicolaas M. J. (Woodinville WA), Solid supports for nucleic acid hybridization assays.
Higgs ; Jr. Richard E. ; Julian ; Jr. Randall K. ; Kaiser ; Jr. Raymond E., System and methods for qualitatively and quantitatively comparing complex admixtures using single ion chromatograms der.
Stylli Chari ; Beckey Samuel S. ; Shumate Christopher Bentley ; Coassin Peter J., Systems and methods for rapidly identifying useful chemicals in liquid samples.
Olson, Gary L.; Self, Christopher; Lee, Lily; Cook, Charles Michael; Birktoft, Jens J., Therapeutic agents and methods of use thereof for the modulation of angiogenesis.
Enke Christie G. (East Lansing MI) Holland John F. (Lansing MI) McLane Richard D. (Lansing MI) Yefchak George E. (Lansing MI), Time-compressed chromatography in mass spectrometry.
Summerton James E. (Corvallis OR) Weller Dwight D. (Corvallis OR), Uncharged morpolino-based polymers having phosphorous containing chiral intersubunit linkages.
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