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The presence of pseudogene\n                    <jats:italic>GBAP1<\/jats:italic>\n                    predisposes to structural variants, complicating genetic analysis. We present two methods to resolve recombinant alleles and other variants in\n                    <jats:italic>GBA<\/jats:italic>\n                    : Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. Both methods were concordant for 42 samples carrying a range of recombinants and\n                    <jats:italic>GBAP1<\/jats:italic>\n                    -related mutations, and Gauchian outperformed the GATK Best Practices pipeline. Applying Gauchian to sequencing of over 10,000 individuals shows that copy number variants (CNVs) spanning\n                    <jats:italic>GBAP1<\/jats:italic>\n                    are relatively common in Africans. CNV frequencies in PD and LBD are similar to controls. Gains may coexist with other mutations in patients, and a modifying effect cannot be excluded. Gauchian detects more\n                    <jats:italic>GBA<\/jats:italic>\n                    variants in LBD than PD, especially severe ones. These findings highlight the importance of accurate\n                    <jats:italic>GBA<\/jats:italic>\n                    analysis in these patients.\n                  <\/jats:p>","DOI":"10.1038\/s42003-022-03610-7","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T16:06:58Z","timestamp":1657123618000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson\u2019s disease-associated GBA gene"],"prefix":"10.1038","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3255-9648","authenticated-orcid":false,"given":"Marco","family":"Toffoli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-2691","authenticated-orcid":false,"given":"Fritz J.","family":"Sedlazeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1117-3006","authenticated-orcid":false,"given":"Chiao-Yin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Mullin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1908-5721","authenticated-orcid":false,"given":"Abigail","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Koletsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica Emili","family":"Garcia-Segura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Sammler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja W.","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony H. 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SWS serve on the Scientific Advisory Council of the Lewy Body Dementia Association. SWS is an editorial board member for the Journal of Parkinson\u2019s Disease and JAMA Neurology. AHVS is supported by the UCLH NIHR BRC. MT, FJS, C-YL, SM, AH, SK, MEG-S, ES and CP declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Ethics approval was provided by the National Research Ethics Service London\u2014Hampstead Ethics Committee for RAPSODI, NRES Committee central\u2014London for QSBB samples and UCL Ethics Committee for PPMI samples. All participants provided informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}],"article-number":"670"}}