Population analysis of large copy number variants and hotspots of human genetic disease. - Wikidata - awgldk - TriplyDB

Population analysis of large copy number variants and hotspots of human genetic disease.

Population analysis of large copy number variants and hotspots of human genetic disease.

http://www.wikidata.org/entity/Q37156109

about

OTX2 duplication is implicated in hemifacial microsomia COPS: a sensitive and accurate tool for detecting somatic Copy Number Alterations using short-read sequence data from paired samples A preliminary study of copy number variation in Tibetans Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy Detectable clonal mosaicism and its relationship to aging and cancer DPY19L2 deletion as a major cause of globozoospermia Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Rare deletions at the neurexin 3 locus in autism spectrum disorder SHANK1 Deletions in Males with Autism Spectrum Disorder Child development and molecular genetics: 14 years later Genomics and autism spectrum disorder Major influence of repetitive elements on disease-associated copy number variants (CNVs)The 15q11.2 BP1-BP2 microdeletion syndrome: a review The clustering of functionally related genes contributes to CNV-mediated disease Detectable clonal mosaicism from birth to old age and its relationship to cancer Assessment of megabase-scale somatic copy number variation using single-cell sequencing Mosaic loss of chromosome Y is associated with common variation near TCL1A Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Massive screening of copy number population-scale variation in Bos taurus genome Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations Missing heritability and strategies for finding the underlying causes of complex disease A copy number variation morbidity map of developmental delay Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.Genome-wide association study of copy number variations (CNVs) with opioid dependence.Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.DiNAMIC: a method to identify recurrent DNA copy number aberrations in tumors Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.Long-read, whole-genome shotgun sequence data for five model organisms Large-scale candidate gene scan reveals the role of chemoreceptor genes in host plant specialization and speciation in the pea aphid.CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics Identification of copy number variations and common deletion polymorphisms in cattle.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

P2860

Q21090627-E8D8CA34-F699-4D23-8F71-AB2783D1F67E Q21133928-C1C9C90B-34BE-4B6B-A30B-C6F998E56E84 Q21134117-87D660DB-D25D-43D7-965E-54E6FF5401DD Q21144892-BA5AD601-49A0-4F2C-BF4B-DCED5FBF3253 Q21198723-EF913DEE-822D-4953-A012-C5D639D24D28 Q21198881-EE23F18A-BB2C-43E2-B768-E3C0BE55E2A3 Q23916196-7F48F95D-7A87-4527-9A23-1FE486A30BDD Q24296485-9DAFA405-9FC0-4485-9A84-EDB467EF82DD Q24300678-8E7C8BE5-9675-456E-8063-D344A054C06C Q24300898-123B14CF-E2E4-4690-A9DE-5421EC4D2533 Q24313471-2DC65AD2-80A4-4B9B-BA60-D6E3CD160C97 Q26853446-730762D1-677B-4354-A3D4-B5C3A86B44A8 Q27015042-9E70DC66-C008-4451-A706-CC060C4CD282 Q28078563-B458DBFB-45BE-4801-95B2-2B6850BB6B55 Q28081580-45D29297-A9C4-4F5B-B837-BA067B20D2E1 Q28260701-20485180-3FA9-4F7E-A6DF-C3EE08B5332E Q28385149-DA7840B5-7DBB-4537-9194-F14CDCE0BF4B Q28388297-05024731-047D-47DF-8B7F-8CBCC4AF4A9F Q28393244-09838E6A-BDCF-45EB-8138-61497AEAD71E Q28647874-9BC8D53A-B8BF-4A32-9DAA-58C7CF6B0D1D Q28732171-EAF263CA-2ED7-40F0-BDD5-34366F9B8854 Q28752220-E99ACD12-FB08-4928-9297-441656DBBEE9 Q28943309-E6BBA12C-B2F7-4B2E-884B-0FC1A80984AA Q29030218-8EED52A3-AB2E-4B56-A04B-90F48D181D71 Q29048172-EFB15F57-E009-4FC0-97E1-61BE8096CBA1 Q29614573-F1461C6C-25D6-42A6-BA01-19CB64AD0E27 Q29614586-380CAB0B-949B-46E4-A0D4-6D8E68D4A7F2 Q29616033-4A9B6CE4-F897-4D08-A144-4DC85B0401CA Q30241067-8427B288-C59D-497D-BECC-8D0A7AD7CEB7 Q30303052-2F655BDD-D704-4307-B7FD-CEB64090F322 Q30427847-57E970F8-208B-45A4-84F2-F207A960F58F Q30429472-0E9C14FD-ADEF-4DEF-A762-863BC9BC076A Q30451842-512A7284-53A2-43AC-8B73-A91DB666F63D Q30498218-E027439B-9683-444F-85D2-B83C47B99322 Q30528737-FF7140AD-D11D-4416-8826-569C4513B668 Q30952245-FC0915E4-B129-4155-B8F7-17E3C583D2D8 Q31088871-2AA903E8-8DB3-409C-9974-F47AB38E552B Q33529487-A0F03BE7-B3E5-4429-9F9D-AB31F829BDAD Q33551067-BA12E6E1-0A80-4822-A375-72BD23F0506B Q33569995-DE8F4692-861F-4526-B47C-C35CD4EAABD0

P2860

Population analysis of large copy number variants and hotspots of human genetic disease.

http://www.wikidata.org/entity/Q37156109

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 22 January 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Population analysis of large copy number variants and hotspots of human genetic disease.

@en

Population analysis of large copy number variants and hotspots of human genetic disease.

@nl

type

label

Population analysis of large copy number variants and hotspots of human genetic disease.

@en

Population analysis of large copy number variants and hotspots of human genetic disease.

@nl

prefLabel

Population analysis of large copy number variants and hotspots of human genetic disease.

@en

Population analysis of large copy number variants and hotspots of human genetic disease.

@nl

P1433

Q37156109-C51EA5CE-3BCE-4887-8A0E-C918B76689F4

P1476

Q37156109-63227F45-9707-4C9B-AED2-6C8D06404D19

P2093

Q37156109-03BBE092-9677-46BF-8E5C-E374BAF06F71

Q37156109-131F0B64-C560-4232-B491-C8B697508AA2

Q37156109-2C40114B-F21D-47D2-A599-54450CF940F3

Q37156109-3778FF7B-8992-486E-B6D2-593EAF8CC4AB

Q37156109-8F1389CD-F58C-4EF9-BE3F-FA2A2CEA55E6

Q37156109-90692CD1-B9AB-4575-9349-2FF347269179

Q37156109-942E6728-8427-4AAA-B87D-C60B54D2A2C9

Q37156109-96DB1BA5-6461-42FF-857E-54C9AD9D627F

Q37156109-AD88CE12-DE40-4311-900B-40EDC98A323D

Q37156109-CC4DDF70-BDB1-4758-9DB4-558EA019B67A

P2860

Q37156109-03761582-6EE2-4349-8BF5-CAB18D182476

Q37156109-09D08EF3-5B84-44FC-8654-A7ED8C86B836

Q37156109-0F1AF02E-76EB-408F-B6B4-2D854C811A06

Q37156109-12930C34-C978-4852-A44D-F7BDAA173035

Q37156109-17B57138-0106-4696-874C-163533E9FA7D

Q37156109-1C972920-82F6-49FB-AE7D-0F354ABA488A

Q37156109-1D7D2384-F619-4657-A725-3520F2DAB94D

Q37156109-2915B602-ECAE-45C8-B78E-D43568000C99

Q37156109-2DAA1C1E-1533-4B12-A870-6A64B180038B

Q37156109-2EEF7FEF-EA92-47B2-B9A8-37D7F7EE2DD1

P304

Q37156109-956F1397-1F3F-42A3-BEBC-681D0D4794F4

P31

Q37156109-C7A95218-E9D1-46C0-BB5E-B02FE329F88B

P356

Q37156109-4EB2738F-86E7-4DCC-8CC4-F96B191C9B5A

P407

Q37156109-00F874BC-5800-40BC-9205-9B3E3EE495EC

P433

Q37156109-8499CFE1-DB9C-4BE8-9A13-331AFCF97A32

P478

Q37156109-62DDAE44-5490-47B3-88E6-B5EF42420929

P50

Q37156109-51D3CC79-E189-45FD-85A6-862322F6BBB1

P577

Q37156109-CCF30A92-17A5-494B-8013-7064FC4CF787

P5875

Q37156109-AF44C5B1-A7DB-4F92-B25D-235BCBDD808B

P698

Q37156109-0D67EBF6-2DD5-4446-8726-67A5DD176326

P932

Q37156109-F4149CC7-3C81-4EBC-9F50-E196EA594511

P356

J.AJHG.2008.12.014

P1433

American Journal of Human Genetics

P1476

Population analysis of large copy number variants and hotspots of human genetic disease.

@en

P2093

Andy Itsara

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

Carl Baker

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

Daniel I Chasman

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

Deborah A Nickerson

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

Evan E Eichler

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

Gregory M Cooper

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

Heather Mefford

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

Jun Li

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

Paul M Ridker

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

Phyllis Ying

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

P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Structural variation in the human genome

Fine-scale structural variation of the human genome

Mapping and sequencing of structural variation from eight human genomes

Rare chromosomal deletions and duplications increase risk of schizophrenia

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Genomic disorders on 22q11

Strong association of de novo copy number mutations with autism

Large recurrent microdeletions associated with schizophrenia

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

P304

148-161

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

P31

scholarly article

P356

10.1016/J.AJHG.2008.12.014

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

P407

P433

2

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

P478

84

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

P50

P577

2009-01-22T00:00:00Z

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

P5875

23937304

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

P698

19166990

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

P932

2668011

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