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To address this gap, we performed whole-genome sequencing of 197 Indian PD cases (106 with early-onset PD (EOPD) and 91 with late-onset PD (LOPD)), capturing SNVs, indels, splice, and structural variants. We identified pathogenic variants in 31 cases across seven PD-associated genes (\n                    <jats:italic>GBA1<\/jats:italic>\n                    ,\n                    <jats:italic>PRKN<\/jats:italic>\n                    ,\n                    <jats:italic>PINK1<\/jats:italic>\n                    ,\n                    <jats:italic>DJ1, SYNJ1, SNCA<\/jats:italic>\n                    , and\n                    <jats:italic>PLA2G6<\/jats:italic>\n                    ), giving a diagnostic rate of 27.6% in EOPD and 2.2% in LOPD. Seven of these variants were novel to Indian populations.\n                    <jats:italic>GBA1<\/jats:italic>\n                    and\n                    <jats:italic>PRKN<\/jats:italic>\n                    were the most frequently mutated genes. Candidate genes with pathogenic variants were enriched in lysosomal pathways. Cases had significantly higher polygenic risk scores, supporting a polygenic contribution to PD risk. Our study establishes one of the first comprehensive sequencing-based resources for PD genetics in India, and underscores the need for large-scale genomic studies across diverse populations.\n                  <\/jats:p>","DOI":"10.1038\/s41531-026-01462-0","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T19:22:34Z","timestamp":1783365754000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole-genome sequencing of 197 cases with Parkinson\u2019s disease reveals novel pathogenic variants in the Indian population"],"prefix":"10.1038","volume":"12","author":[{"given":"Hiba","family":"Ali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banashree","family":"Mondal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andie","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camellia","family":"Sarkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bikram Kumar","family":"Panda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khader Valli","family":"Rupanagudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram V.","family":"Holla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarunya","family":"Nagaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha GS","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shweta","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahima","family":"Bhardwaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Mailankody","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan R.","family":"Mahale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitish","family":"Kamble","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod Kumar","family":"Pal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Stezin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Latha","family":"Diwakar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shweta","family":"Ramdas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,6]]},"reference":[{"key":"1462_CR1","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.1016\/S0140-6736(21)00218-X","volume":"397","author":"BR Bloem","year":"2021","unstructured":"Bloem, B. 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