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000255487 1001_ $$00000-0002-8003-4029$$aBillingsley, Kimberley J$$b0
000255487 245__ $$aGenome-Wide Analysis of Structural Variants in Parkinson Disease.
000255487 260__ $$aHoboken, NJ$$bWiley-Blackwell$$c2023
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000255487 520__ $$a Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. Consequently, causal variants for most PD risk are not known. Here we focused on structural variants (SVs), which represent a major source of genetic variation in the human genome. We aimed to discover SVs associated with PD risk by performing the first large-scale characterization of SVs in PD.We leveraged a recently developed computational pipeline to detect and genotype SVs from 7,772 Illumina short-read whole genome sequencing samples. Using this set of SV variants, we performed a genome-wide association study using 2,585 cases and 2,779 controls and identified SVs associated with PD risk. Furthermore, to validate the presence of these variants, we generated a subset of matched whole-genome long-read sequencing data.We genotyped and tested 3,154 common SVs, representing over 412 million nucleotides of previously uncatalogued genetic variation. Using long-read sequencing data, we validated the presence of three novel deletion SVs that are associated with risk of PD from our initial association analysis, including a 2 kb intronic deletion within the gene LRRN4.We identified three SVs associated with genetic risk of PD. This study represents the most comprehensive assessment of the contribution of SVs to the genetic risk of PD to date. ANN NEUROL 2023;93:1012-1022.
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000255487 650_2 $$2MeSH$$aHumans
000255487 650_2 $$2MeSH$$aGenome-Wide Association Study
000255487 650_2 $$2MeSH$$aParkinson Disease: genetics
000255487 650_2 $$2MeSH$$aGenome, Human
000255487 650_2 $$2MeSH$$aWhole Genome Sequencing
000255487 650_2 $$2MeSH$$aGenotype
000255487 7001_ $$aDing, Jinhui$$b1
000255487 7001_ $$aJerez, Pilar Alvarez$$b2
000255487 7001_ $$0P:(DE-2719)2812762$$aIllarionova, Anastasia$$b3$$udzne
000255487 7001_ $$aLevine, Kristin$$b4
000255487 7001_ $$aGrenn, Francis P$$b5
000255487 7001_ $$aMakarious, Mary B$$b6
000255487 7001_ $$aMoore, Anni$$b7
000255487 7001_ $$aVitale, Daniel$$b8
000255487 7001_ $$aReed, Xylena$$b9
000255487 7001_ $$0P:(DE-HGF)0$$aHernandez, Dena$$b10
000255487 7001_ $$aTorkamani, Ali$$b11
000255487 7001_ $$aRyten, Mina$$b12
000255487 7001_ $$aHardy, John$$b13
000255487 7001_ $$aConsortium, UK Brain Expression$$b14$$eCollaboration Author
000255487 7001_ $$aChia, Ruth$$b15
000255487 7001_ $$00000-0002-6623-0429$$aScholz, Sonja W$$b16
000255487 7001_ $$aTraynor, Bryan J$$b17
000255487 7001_ $$aDalgard, Clifton L$$b18
000255487 7001_ $$aEhrlich, Debra J$$b19
000255487 7001_ $$aTanaka, Toshiko$$b20
000255487 7001_ $$aFerrucci, Luigi$$b21
000255487 7001_ $$aBeach, Thomas G$$b22
000255487 7001_ $$aSerrano, Geidy E$$b23
000255487 7001_ $$aQuinn, John P$$b24
000255487 7001_ $$aBubb, Vivien J$$b25
000255487 7001_ $$aCollins, Ryan L$$b26
000255487 7001_ $$aZhao, Xuefang$$b27
000255487 7001_ $$aWalker, Mark$$b28
000255487 7001_ $$aPierce-Hoffman, Emma$$b29
000255487 7001_ $$aBrand, Harrison$$b30
000255487 7001_ $$aTalkowski, Michael E$$b31
000255487 7001_ $$00000-0002-2623-5997$$aCasey, Bradford$$b32
000255487 7001_ $$aCookson, Mark R$$b33
000255487 7001_ $$aMarkham, Androo$$b34
000255487 7001_ $$aNalls, Mike A$$b35
000255487 7001_ $$aMahmoud, Medhat$$b36
000255487 7001_ $$aSedlazeck, Fritz J$$b37
000255487 7001_ $$0P:(DE-2719)2810837$$aBlauwendraat, Cornelis$$b38$$udzne
000255487 7001_ $$00000-0002-6985-0658$$aGibbs, J Raphael$$b39
000255487 7001_ $$aSingleton, Andrew B$$b40
000255487 773__ $$0PERI:(DE-600)2037912-2$$a10.1002/ana.26608$$gp. ana.26608$$n5$$p1012-1022$$tAnnals of neurology$$v93$$x0364-5134$$y2023
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