Evolutionary toggling of the MAPT 17q21.31 inversion region
about
Modernizing reference genome assembliesAn alignment-free method to find and visualise rearrangements between pairs of DNA sequencesComplete Khoisan and Bantu genomes from southern Africa.Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotypeGenetic variation and the de novo assembly of human genomesAssociation of Long Runs of Homozygosity With Alzheimer Disease Among African American IndividualsProperties and rates of germline mutations in humansGene inactivation and its implications for annotation in the era of personal genomicsThe distribution and most recent common ancestor of the 17q21 inversion in humansIdentification of common variants influencing risk of the tauopathy progressive supranuclear palsy.Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.A copy number variation morbidity map of developmental delayNucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Structural haplotypes and recent evolution of the human 17q21.31 region.Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblyGenetic studies in human prion diseases.Genome-wide computational analysis of dioxin response element location and distribution in the human, mouse, and rat genomes.Pseudogenes as an alternative source of natural antisense transcripts.Novel origins of copy number variation in the dog genome.The origins and impact of primate segmental duplications.Inversion variants in the human genome: role in disease and genome architectureA recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Haplotype-resolved genome sequencing of a Gujarati Indian individual.Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskCommon inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific mannerEvaluation of Parkinson disease risk variants as expression-QTLs.Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilitySingle haplotype assembly of the human genome from a hydatidiform moleHaplotype-based genomic sequencing of a chromosomal polymorphism in the white-throated sparrow (Zonotrichia albicollis)Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.The genetics of microdeletion and microduplication syndromes: an update.Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.A large duplication involving the IHH locus mimics acrocallosal syndrome.Tau isoform composition influences rate and extent of filament formationThe origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.A novel Alzheimer disease locus located near the gene encoding tau protein.Human inversions and their functional consequences
P2860
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P2860
Evolutionary toggling of the MAPT 17q21.31 inversion region
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Evolutionary toggling of the MAPT 17q21.31 inversion region
@ast
Evolutionary toggling of the MAPT 17q21.31 inversion region
@en
Evolutionary toggling of the MAPT 17q21.31 inversion region
@nl
type
label
Evolutionary toggling of the MAPT 17q21.31 inversion region
@ast
Evolutionary toggling of the MAPT 17q21.31 inversion region
@en
Evolutionary toggling of the MAPT 17q21.31 inversion region
@nl
prefLabel
Evolutionary toggling of the MAPT 17q21.31 inversion region
@ast
Evolutionary toggling of the MAPT 17q21.31 inversion region
@en
Evolutionary toggling of the MAPT 17q21.31 inversion region
@nl
P2093
P2860
P50
P356
P1433
P1476
Evolutionary toggling of the MAPT 17q21.31 inversion region
@en
P2093
Amr Abouelleil
Amy Denise Reily
Hon-Chung Fung
Jaime Duckworth
Jarret Glasscock
John Wallis
LaDeana W Hillier
Richard K Wilson
Tina A Graves
P2860
P2888
P304
P356
10.1038/NG.193
P407
P50
P577
2008-09-01T00:00:00Z
P5875
P6179
1040817229