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@ARTICLE{Hu:282330,
      author       = {Hu, Jialu and Mantey, Richard and Guo, Hengyuan and Sidky,
                      Ahmed Mokhtar and Touhidinia, Maryam and Butt, Tanzeem and
                      Sobhani, Roohollah and Estrada, Santiago and Haendler,
                      Kristian and Zhao, Shixiao and Shang, Xuequn and De
                      Domenico, Elena and Beyer, Marc D. and Breteler, Monique M.
                      B. and Aziz, N. Ahmad},
      title        = {{G}enome-wide profiling of short tandem repeat somatic
                      instability reveals associations with age, sex and
                      brain-related traits},
      reportid     = {DZNE-2025-01291},
      year         = {2025},
      abstract     = {Short tandem repeats (STRs) are highly abundant in the
                      human genome and their age-related somatic instability is
                      emerging as a pivotal pathomechanism in repeat expansion
                      disorders. Nevertheless, currently no analysis tool exists
                      for genome-wide profiling of STR somatic instability. Here,
                      we present searchSTR, a novel computational framework that
                      enables accurate STR genotyping and somatic instability
                      quantification from both whole-genome and targeted
                      sequencing data. Applying this approach, we analyzed STR
                      variants from whole-genome sequencing data of the 1000
                      Genomes Project (n=3,202) and targeted deep-sequencing data
                      of the population-based Rhineland Study (n=2,974). We
                      provide a comprehensive multiancestry genome-wide reference
                      panel of STR variants and their somatic instability,
                      covering more than 1.4 million STRs across 26 populations.
                      Remarkably, STR somatic instability at many loci was
                      robustly associated with age, sex, brain morphology and
                      markers of neurodegeneration. These findings reveal a
                      crucial role for STR somatic instability as an age-dependent
                      modifier of brain structure.},
      cin          = {AG Aziz / AG Breteler / AG Beyer / AG Reuter / AG Schultze},
      cid          = {I:(DE-2719)5000071 / I:(DE-2719)1012001 /
                      I:(DE-2719)1013035 / I:(DE-2719)1040310 /
                      I:(DE-2719)1013038},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354) /
                      TRANSIT-ND - Tandem Repeats Associated with Neurogenomic
                      Somatic Instability and Neurodegeneration (101041677) / 351
                      - Brain Function (POF4-351)},
      pid          = {G:(DE-HGF)POF4-354 / G:(EU-Grant)101041677 /
                      G:(DE-HGF)POF4-351},
      experiment   = {EXP:(DE-2719)PRECISE-20190321},
      typ          = {PUB:(DE-HGF)25},
      doi          = {10.1101/2025.11.13.25340159},
      url          = {https://pub.dzne.de/record/282330},
}