Meyer et al., 2012 - Google Patents
A high-coverage genome sequence from an archaic Denisovan individualMeyer et al., 2012
View HTML- Document ID
- 4060987299999070520
- Author
- Meyer M
- Kircher M
- Gansauge M
- Li H
- Racimo F
- Mallick S
- Schraiber J
- Jay F
- Prüfer K
- De Filippo C
- Sudmant P
- Alkan C
- Fu Q
- Do R
- Rohland N
- Tandon A
- Siebauer M
- Green R
- Bryc K
- Briggs A
- Stenzel U
- Dabney J
- Shendure J
- Kitzman J
- Hammer M
- Shunkov M
- Derevianko A
- Patterson N
- Andrés A
- Eichler E
- Slatkin M
- Reich D
- Kelso J
- Pääbo S
- Publication year
- Publication venue
- Science
External Links
Snippet
We present a DNA library preparation method that has allowed us to reconstruct a high- coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that …
- 241001164991 Homo sapiens subsp. 'Denisova' 0 title abstract description 102
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- 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
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- 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
- C12Q1/6813—Hybridisation assays
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/28—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| Meyer et al. | A high-coverage genome sequence from an archaic Denisovan individual | |
| Carss et al. | Using human genetics to improve safety assessment of therapeutics | |
| Viñuela et al. | Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D | |
| Armanios et al. | Haploinsufficiency of te lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita | |
| Wang et al. | Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas | |
| Reeves et al. | Functionally distinct ERAP1 allotype combinations distinguish individuals with Ankylosing Spondylitis | |
| Benjafield et al. | G-protein β3 subunit gene (GNB3) variant in causation of essential hypertension | |
| Xu et al. | Human cancer cells harbor T-stumps, a distinct class of extremely short telomeres | |
| Liu et al. | The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo | |
| Hor et al. | Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor | |
| Yip et al. | Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers | |
| Yu et al. | Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration | |
| Arboleda et al. | Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome | |
| Bertocci et al. | Nonoverlapping functions of DNA polymerases mu, lambda, and terminal deoxynucleotidyltransferase during immunoglobulin V (D) J recombination in vivo | |
| Bonnefond et al. | Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing | |
| Ihle et al. | An analysis of signatures of selective sweeps in natural populations of the house mouse | |
| Owen et al. | Relationship between the C3435T and G2677T (A) polymorphisms in the ABCB1 gene and P‐glycoprotein expression in human liver | |
| Usher et al. | Complex and multi-allelic copy number variation in human disease | |
| Sanchez et al. | Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease | |
| Joslin et al. | A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci | |
| Bryen et al. | Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly | |
| Martin et al. | The structures of mouse and human L1 elements reflect their insertion mechanism | |
| Vallet et al. | Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone | |
| Kerr et al. | An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort | |
| Webb et al. | Telomerase RNA is more than a DNA template |