Genetic sex validation for sample tracking in next-generation sequencing clinical testing

• DOI: 10.1186/s13104-024-06723-w
• Publication Date: 2024-03-03T14:01:27Z
• Authors: Jianhong Hu; Viktoriya Korchina; Hana Zouk; Maegan V. Harden; David Murdock; Alyssa Macbeth; Steven M. Harrison; Niall Lennon; Christie Kovar; Adithya Balasubra...; Lan Zhang; Gauthami Chandana...; Divya Pasham; Robb Rowley; Ken Wiley; Maureen E. Smith; Adam Gordon; Gail P. Jarvik; Patrick Sleiman; Melissa A. Kelly; Harris T. Bland; Mullai Murugan; Eric Venner; Eric Boerwinkle; ; Debra J. Abrams; Samuel E. Adunyah; Ladia H. Albertso...; Berta Almoguera; Paul S. Appelbaum; Samuel Aronson; Sharon Aufox; Lawrence J. Babb; Hana Bangash; Melissa A. Basford; Meckenzie Behr; Barbara Benoit; Elizabeth J. Bhoj; Sarah T. Bland; Kenneth M. Borthwick; Erwin P. Bottinger; Deborah J. Bowen; Mark Bowser; Murray Brilliant; Adam H. Buchanan; Andrew Cagan; Pedro J. Caraballo; David J. Carey; David S. Carrell; Victor M. Castro; Rex L. Chisholm; Wendy Chung; Christopher G. Chute; Brittany B. City; Ellen Wright Clayton; Beth L. Cobb; John J. Connolly; Paul K. Crane; Katherine D. Crew; David R. Crosslin; Renata P. da Silva; Jyoti G. Dayal; Mariza De Andrade; Josh C. Denny; Ozan Dikilitas; Alanna J. DiVietro; Kevin R. Dufendach; Todd L. Edwards; Christine Eng; David Fasel; Alex Fedotov; Stephanie M. Full...; Birgit Funke; Stacey Gabriel; Vivian S. Gainer; Ali Gharavi; Joe T. Glessner; Jessica M. Goehri...; Adam S. Gordon; Chet Graham; Heather S. Hain; Hakon Hakonarson; John Harley; Margaret Harr; Andrea L. Hartzler; Scott Hebbring; Jacklyn N. Hellwege; Nora B. Henrikson; Christin Hoell; Ingrid Holm; George Hripcsak; Alexander L. Hsieh; Elizabeth D. Hynes; Darren K. Johnson; Laney K. Jones; Yoonjung Y. Joo; Sheethal Jose; Navya Shilpa Josyula; Anne E. Justice; Elizabeth W. Karlson; Kenneth M. Kaufman; Jacob M. Keaton; Eimear E. Kenny; Dustin L. Key; Atlas Khan; H. Lester Kirchner; Krzysztof Kiryluk; Terrie Kitchner; Barbara J. Klande...; David C. Kochan; Emily Kudalkar; Benjamin R. Kuhn; Iftikhar J. Kullo; Philip Lammers; Eric B. Larson; Matthew S. Lebo; Ming Ta Michael Lee; Kathleen A. Leppig; Chiao-Feng Lin; Jodell E. Linder; Noralane M. Lindor; Todd Lingren; Cong Liu; Yuan Luo; John Lynch; Bradley A. Malin; Brandy M. Mapes; Maddalena Marasa; Keith Marsolo; Elizabeth McNally; Frank D. Mentch; Erin M. Miller; Hila Milo Rasouly; Shawn N. Murphy; Melanie F. Myers; Bahram Namjou; Addie I. Nesbitt; Jordan Nestor; Yizhao Ni; Janet E. Olson; Aniwaa Owusu Obeng; Jennifer A. Pacheco; Joel E. Pacyna; Thomas N. Person; Josh F. Peterson; Lynn Petukhova; Cassandra Pisieczko; Siddharth Pratap; Megan J. Puckelwartz; Alanna K. Rahm; James D. Ralston; Arvind Ramaprasan; Luke V. Rasmussen; Laura J. Rasmusse...; Dan M. Roden; Elisabeth A. Rose...; Maya S. Safarova; Avni Santani; Juliann M. Savatt; Daniel J. Schaid; Steven Scherer; Baergen I. Schultz; Aaron Scrol; Soumitra Sengupta; Gabriel Q. Shaibi; Ning Shang; Himanshu Sharma; Richard R. Sharp; Yufeng Shen; Rajbir Singh; Jordan W. Smoller; Duane T. Smoot; Ian B. Stanaway; Justin Starren; Timoethia M. Stone; Amy C. Sturm; Agnes S. Sundaresan; Peter Tarczy-Hornoch; Casey Overby Taylor; Lifeng Tian; Sara L. Van Driest; Matthew Varugheese; Lyam Vazquez; David L. Veenstra; Digna R. Velez Ed...; Miguel Verbitsky; Kimberly Walker; Nephi Walton; Theresa Walunas; Firas H. Wehbe; Wei-Qi Wei; Scott T. Weiss; Quinn S. Wells; Chunhua Weng; Marc S. Williams; Janet Williams; Leora Witkowski; Laura Allison B. ...; Julia Wynn; Yanfei Zhang; Jodell Jackson; Cynthia Prows; Lisa Mahanta; Heidi L. Rehm; Richard A. Gibbs; Donna M. Muzny
• Keywords: SNP; SNP genotyping; Sample (material)

Abstract Objective Data from DNA genotyping via a 96-SNP panel in study of 25,015 clinical samples were utilized for quality control and tracking sample identity sequencing network. The aimed to demonstrate the value both precise SNP utility predicting sex-by-genotype participants, identify possible mix-ups. Results Precise showed no swap errors within testing laboratories. In contrast, when comparing predicted provided sex on test requisition, we identified 110 inconsistencies (0.44%), that had occurred during collection or accessioning. genetic predictions confirmed using additional sites data high-density arrays. It was determined discrepancies resulted clerical (49.09%), transgender participants (3.64%) stem cell bone marrow transplant patients (7.27%) along with undetermined mix-ups (40%) which swaps prior arrival at genome centers, however exact cause events sampling resulting not able be determined.