The fine-scale and complex architecture of human copy-number variation - Wikidata - wikimedia - TriplyDB

The fine-scale and complex architecture of human copy-number variation

The fine-scale and complex architecture of human copy-number variation

http://www.wikidata.org/entity/Q37141839

about

Web-based, participant-driven studies yield novel genetic associations for common traits Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology Genomic drift and copy number variation of chemosensory receptor genes in humans and mice Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries Human molecular cytogenetics: From cells to nucleotides Elusive copy number variation in the mouse genome Complex and multi-allelic copy number variation in human disease Comparative analysis of copy number variation detection methods and database construction Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes Human DHX9 helicase unwinds triple-helical DNA structures Characterizing complex structural variation in germline and somatic genomes Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus The human genome puzzle - the role of copy number variation in somatic mosaicism Small deletion variants have stable breakpoints commonly associated with alu elements.Functional copy-number alterations in cancer.Copy number variations (CNVs) identified in Korean individuals.High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.Association tests and software for copy number variant data.A flexible rank-based framework for detecting copy number aberrations from array data.CCL3L Copy number variation and the co-evolution of primate and viral genomes.A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Molecular cytogenetics and cytogenomics of brain diseases.Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Integrating sequencing technologies in personal genomics: optimal low cost reconstruction of structural variants Identification of copy number variants defining genomic differences among major human groups Early embryonic chromosome instability results in stable mosaic pattern in human tissues Identification of copy number variations and common deletion polymorphisms in cattle.Copy number variation in the bovine genome CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.A classification model for distinguishing copy number variants from cancer-related alterations.An initial map of chromosomal segmental copy number variations in the chicken

P2860

Q21092440-90F2AF12-D584-40ED-8DF2-52F9C781F018 Q24307839-CCE1CF97-1022-4B8E-A46B-FD00765CF336 Q24613521-3B9A68A1-5939-40D4-893D-401E2374644F Q24632923-6F9FF069-DF04-4B61-A118-43D44AC99E2D Q24633716-3CC0C3CC-1011-4600-9BE6-1F175094CA4A Q24646304-8474998B-E8D1-4226-9380-92247D860C01 Q27024633-E7A993FB-42EB-4A21-A20E-5952CCCFF8CA Q27319866-CC1E7EBE-6FDD-464E-B904-3F3171E47024 Q28083824-EF44F93D-E5C9-41C4-8243-B6572E4D7051 Q28741909-5DDF02A0-6CEA-466A-9664-FC2AAC450B6C Q28752220-E8F8016E-D0F9-427D-A910-CD9CE2F0B64A Q28752684-1514B2E8-69BE-4A18-BF60-426EEF53A361 Q28754594-F4844686-700B-4E5B-AA3F-5563380DBAC6 Q30090219-67109A3C-30B3-4ACF-9F59-D8FB16138003 Q30423222-261F4FB4-8DE4-4384-9792-2D0DED37EF6C Q30434301-D3978CA4-E54E-4879-B0B9-272429E3E7D8 Q30479569-7A12BB81-76D0-4898-A6BE-66BC5E4FC6A2 Q30886605-FF032E90-9397-4B1B-9493-580FA64BFB79 Q31158031-EA293EDE-EC8B-42BB-AB88-AE594E45C5CF Q33350714-58D64D21-43F2-46FC-B624-C8CD5DC9CB6E Q33366520-0624437B-7E59-497C-A1AF-E214DF43F80D Q33368629-AF0E8231-9791-4FF7-9AE8-712C4DF973DC Q33377598-7B23544D-0496-49CA-9709-19467F82DCFD Q33383228-612E4DAC-AA6F-47D6-9B45-A81DEC9B219A Q33402371-22FA0DA5-80EB-4E55-9EF4-D4DD33EDE021 Q33403709-D577025F-37F3-4693-87D5-E1DD52E040E4 Q33404088-6C59EB99-15C2-485E-8080-0AADBA1E9DC9 Q33407921-49D51D4A-B936-49FD-A576-DE023DBD98E7 Q33458936-77FCDFE7-AB41-475A-B833-56C7A341797A Q33464340-DD1CCC62-0D6A-4D07-82FE-2605E754755B Q33468694-07C9A2B6-4DB7-467D-8ADA-465FFD8A6B16 Q33480832-642AC95D-F88F-4F3A-A2DF-897C42A0D809 Q33480954-EA6D8B9E-B7D9-4CF0-94C1-C202E0F24827 Q33507516-A68892A4-10DD-4C8A-AA45-71864FCAC728 Q33541019-991E6214-FF64-435F-8621-755692CFE583 Q33551067-FDFAEB39-D2B0-4078-86C0-ED9A7AAFFBAD Q33574937-A62571A2-897A-49F7-857C-E2C825D2A66E Q33581300-F2F64F35-2349-4A3C-8B1B-E400130E88FE Q33594892-9271D801-743C-443E-A73F-E98A09E84720 Q33594977-BE03BD51-8E81-4F56-BFD9-3FF582AC3ACC

P2860

The fine-scale and complex architecture of human copy-number variation

http://www.wikidata.org/entity/Q37141839

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 24 January 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

The fine-scale and complex architecture of human copy-number variation

@en

The fine-scale and complex architecture of human copy-number variation.

@nl

type

label

The fine-scale and complex architecture of human copy-number variation

@en

The fine-scale and complex architecture of human copy-number variation.

@nl

prefLabel

The fine-scale and complex architecture of human copy-number variation

@en

The fine-scale and complex architecture of human copy-number variation.

@nl

P1433

Q37141839-DDD87B5B-326D-4C3F-81BD-72802EC8BE17

P1476

Q37141839-AEA9DD03-2FF5-4462-8636-E05BB669DCCF

P2093

Q37141839-00B77C95-19E3-45C9-81AE-ED5406A15C72

Q37141839-3046C875-AF8A-47DD-A9A2-5EC1E52973B3

Q37141839-4A477ACA-26F7-4C3B-8A0E-6D34C38DD9B3

Q37141839-4A7ED154-B221-43DD-9484-E8F124058FF2

Q37141839-4B1C3C11-4F35-47FA-92EA-85BBE55803A4

Q37141839-4D2D3332-3FC3-48EF-9465-DF4738184FD3

Q37141839-5B4B88D9-FBAF-427B-B424-34E037B61B79

Q37141839-5E7BC1A4-C848-493F-94E3-C568C914CFD4

Q37141839-5EBCDB70-7A03-4409-8210-27736110BD80

Q37141839-67A72428-94D0-43EF-9642-27FCC4BBE636

P2860

Q37141839-018AF35B-0410-43C5-8ED0-FCC2029D705A

Q37141839-023C03F9-3E3D-4FDF-BA91-31FABCB5576F

Q37141839-0937BDCE-96EF-410A-9143-CBDEACE06B72

Q37141839-0F57E0B4-23ED-446D-961D-74F8873384FB

Q37141839-17A14426-9C9D-416D-822E-98FE84E73CFF

Q37141839-1D5148AB-D4B7-4D48-939C-E8C4DDF0EE07

Q37141839-1F0146F3-611C-4045-AAF2-3A4C3B5B3463

Q37141839-2ABDACFE-E7CC-4E47-9BAB-C3525FAE6A90

Q37141839-346900D0-9FA5-42B4-92BB-F6CF44A0191D

Q37141839-3473C4B1-9CB9-460A-9C68-88D2EABD8BBD

P304

Q37141839-658388F1-0F8A-4298-883E-A222E23A762C

P31

Q37141839-C6728F55-24F0-4E8E-A92F-6823335814D0

P356

Q37141839-2E27C0DC-E5EF-4227-A3B3-4DE01DA01D20

P407

Q37141839-80EF1A02-78C7-4C84-85CE-3B2398748613

P433

Q37141839-7ED3F093-E2C0-4FDC-B560-BCF4A2CF6A0A

P478

Q37141839-3C86F4C7-E685-42B0-87E7-CF8CCADACD58

P50

Q37141839-94654C65-729E-45F0-96AC-6C9951971F2E

P577

Q37141839-ADD57DE5-8D57-44FE-868C-9310C3BF81DF

P5875

Q37141839-6C91DB0B-37F6-4793-89D4-9B2B854C4AE4

P698

Q37141839-36D0926D-7D34-472A-9E01-1425AD9704A1

P932

Q37141839-1F0B56F5-BFF8-4B9C-94E5-25135A1457B6

P356

J.AJHG.2007.12.010

P1433

American Journal of Human Genetics

P1476

The fine-scale and complex architecture of human copy-number variation

@en

P2093

Alicia Scheffer

http://www.w3.org/2001/XMLSchema#string

Amir Ben-Dor

http://www.w3.org/2001/XMLSchema#string

Anya Tsalenko

http://www.w3.org/2001/XMLSchema#string

Charles Lee

http://www.w3.org/2001/XMLSchema#string

Charles W Tran

http://www.w3.org/2001/XMLSchema#string

George H Perry

http://www.w3.org/2001/XMLSchema#string

Han Soo Park

http://www.w3.org/2001/XMLSchema#string

Israel Steinfeld

http://www.w3.org/2001/XMLSchema#string

Jeong-Sun Seo

http://www.w3.org/2001/XMLSchema#string

Laia Rodriguez-Revenga

http://www.w3.org/2001/XMLSchema#string

P2860

Fine-scale structural variation of the human genome

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

Paired-end mapping reveals extensive structural variation in the human genome

Diet and the evolution of human amylase gene copy number variation

Global variation in copy number in the human genome

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

A haplotype map of the human genome

P304

685-695

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1016/J.AJHG.2007.12.010

http://www.w3.org/2001/XMLSchema#string

P407

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

82

http://www.w3.org/2001/XMLSchema#string

P50

P577

2008-01-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

5548967

http://www.w3.org/2001/XMLSchema#string

P698

18304495

http://www.w3.org/2001/XMLSchema#string

P932

2661628

http://www.w3.org/2001/XMLSchema#string