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@ARTICLE{Billingsley:255487,
      author       = {Billingsley, Kimberley J and Ding, Jinhui and Jerez, Pilar
                      Alvarez and Illarionova, Anastasia and Levine, Kristin and
                      Grenn, Francis P and Makarious, Mary B and Moore, Anni and
                      Vitale, Daniel and Reed, Xylena and Hernandez, Dena and
                      Torkamani, Ali and Ryten, Mina and Hardy, John and Chia,
                      Ruth and Scholz, Sonja W and Traynor, Bryan J and Dalgard,
                      Clifton L and Ehrlich, Debra J and Tanaka, Toshiko and
                      Ferrucci, Luigi and Beach, Thomas G and Serrano, Geidy E and
                      Quinn, John P and Bubb, Vivien J and Collins, Ryan L and
                      Zhao, Xuefang and Walker, Mark and Pierce-Hoffman, Emma and
                      Brand, Harrison and Talkowski, Michael E and Casey, Bradford
                      and Cookson, Mark R and Markham, Androo and Nalls, Mike A
                      and Mahmoud, Medhat and Sedlazeck, Fritz J and Blauwendraat,
                      Cornelis and Gibbs, J Raphael and Singleton, Andrew B},
      collaboration = {Consortium, UK Brain Expression},
      title        = {{G}enome-{W}ide {A}nalysis of {S}tructural {V}ariants in
                      {P}arkinson {D}isease.},
      journal      = {Annals of neurology},
      volume       = {93},
      number       = {5},
      issn         = {0364-5134},
      address      = {Hoboken, NJ},
      publisher    = {Wiley-Blackwell},
      reportid     = {DZNE-2023-00288},
      pages        = {1012-1022},
      year         = {2023},
      note         = {CC BY-NC},
      abstract     = {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.},
      keywords     = {Humans / Genome-Wide Association Study / Parkinson Disease:
                      genetics / Genome, Human / Whole Genome Sequencing /
                      Genotype},
      cin          = {Core ICRU},
      ddc          = {610},
      cid          = {I:(DE-2719)1240005},
      pnm          = {899 - ohne Topic (POF4-899) / 353 - Clinical and Health
                      Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-899 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10192042},
      pubmed       = {pmid:36695634},
      doi          = {10.1002/ana.26608},
      url          = {https://pub.dzne.de/record/255487},
}