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Illumina

学者数1.1K
论文数463
被引数1
关联论文 (453)
发表时间
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)关于在生殖细胞遗传和基因组检测中报告意义未明变异的注意事项:美国医学遗传学与基因组学学院(ACMG)声明
err2026-06-12
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PREAI
errChloe Mighton; Aya Abu-El-Haija; Vimla Aggarwal; Yassmine M.N. Akkari; Caroline Astbury; D. Hunter Best; Laura K. Conlin; Steven M. Harrison; Nan Jiang; Paul Kruszka; Dianalee McKnight; Tiffany T. Nguyen Dolphyn; Farid Barquet Ramos; Christie P. Thomas; Lora J.H. Bean; Heidi L. Rehm
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Publisher Correction: Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participantsPublisher更正:44,287名多祖先参与者中肺功能与COPD的全基因组序列分析
err2026-06-09
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errOAAI
errWonji Kim; Xiaowei Hu; Kangjin Kim; Sung Chun; Peter Orchard; Dandi Qiao; Ingo Ruczinski; Aabida Saferali; Francois Aguet; Lucinda Antonacci-Fulton; Pallavi P. Balte; Traci M. Bartz; Wardatul Jannat Anamika; Xiaobo Zhou; JunYi Duan; Jennifer A. Brody; Brian E. Cade; Martha L. Daviglus; Harshavadran Doddapaneni; Shannon Dugan-Perez; Susan K. Dutcher; Christian D. Frazar; Stacey B. Gabriel; Sina A. Gharib; Namrata Gupta; Brian D. Hobbs; Silva Kasela; Laura R. Loehr; Ginger A. Metcalf; Donna M. Muzny; Elizabeth C. Oelsner; Laura J. Rasmussen-Torvik; Colleen M. Sitlani; Joshua Smith; Tamar Sofer; Hanfei Xu; Bing Yu; David Zhang; John Ziniti; R. Graham Barr; April P. Carson; Myriam Fornage; Lifang Hou; Ravi Kalhan; Robert Kaplan; Tuuli Lappalainen; Stephanie J. London; Alanna C. Morrison; George T. O’Connor; Bruce M. Psaty; Laura M. Raffield; Susan Redline; Stephen S. Rich; Jerome I. Rotter; Edwin K. Silverman; Ani Manichaikul; Michael H. Cho
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Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D使用SNPdrug3D分析不同人群中药物结合与药物遗传变异的基因组景观
err2026-06-09
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errOAAI
errAshar J. Malik; Dimitar Kenanov; Cheng-Shoong Chong; Mert Burak Ozturk; Qiqi Wang; Hong-Yun Chang; Maxime Hebrard; Ying Swan Ho; Zhenxun Wang; Vachiranee Limviphuvadh; Jhoann M. T. Miyajima; Srinivasaraghavan Kannan; Roberto Tirado Magallanes; Xueling Sim; Jin Fang Chai; Sonia Davila; Khung Keong Yeo; Khai Pang Leong; Liuh Ling Goh; Neerja Karnani; Johan Gunnar Eriksson; Ching-Yu Cheng; Tien Yin Wong; Marie Loh; Rinkoo Dalan; Chiea Chuen Khor; Guo-Liang Chew; Weng Khong Lim; Joanne Ngeow; John C. Chambers; E. Shyong Tai; Nicolas Bertin; Chris Soon Heng Tan; Judice Koh; Patrick Tan; Chandra S. Verma; Sebastian Maurer-Stroh
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Liquid-based genomic profiling in high-risk localized prostate cancer高风险局限性前列腺癌的液体活检基因组分析
err2026-04-10
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PREAI
errBettoni, Fabiana; Coser, Elisangela Monteiro; dos Santos, Ernande Xavier; Canteli, Amanda Rafaela Alves; Morandi Filho, Romualdo; Lira, Vandeclecio; Loureiro, Livia; Dellamano, Marcia; Torrieri, Raul; Alves, Maria Jose Ferreira; Cardili, Leonardo; Muniz, David Queiroz Borges; Ilario, Eder Nisi; Chammas, Roger; Nahas, William Carlos; Bastos, Diogo Assed; Camargo, Anamaria Aranha
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Multiomics and deep learning dissect regulatory syntax in human development多组学和深度学习解析人类发育中的调控语法
errNature
IF48.5
err2026-04-08
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errOAAI
errBetty B. Liu; Selin Jessa; Samuel H. Kim; Yan Ting Ng; Soon Il Higashino; Georgi K. Marinov; Derek C. Chen; Benjamin E. Parks; Li Li; Tri C. Nguyen; Austin T. Wang; Sean K. Wang; Meng How Tan; Serena Y. Tan; Michael Kosicki; Len A. Pennacchio; Eyal Ben-David; Anca M. Pasca; Anshul Kundaje; Kyle K. H. Farh; William J. Greenleaf
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NTRK fusions and concomitant immune and genomic landscape detected by DNA and RNA comprehensive genomic profiling in a large healthcare systemNTRK融合及通过DNA和RNA综合基因组分析检测到的伴随免疫和基因组景观,在一个大型医疗系统中的研究
err2026-04-05
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errOAAI
errAK Alexa K. Dowdell; TR Thomas R. Ward; LT Lauren T. Hamilton; RK Roshanthi K. Weerasinghe; ES Erica Schnettler; PS Pratheesh Sathyan; AR Alison Roos; JT Josiah T. Wagner; JW John Welle; RC Ryan C. Meng; AQ Alexandra Q. Bartlett; CB Carlo B. Bifulco; BD Brian D. Piening
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Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callersHG002基因组参考材料中子克隆变异体的表征,作为评估变异检测算法的资源
err2026-04-01
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errOAAI
errDaniels, Camille A.; Abdulkadir, Adetola A.; Cleveland, Megan H.; McDaniel, Jennifer H.; Jaspez, David; Rubio-Rodrnguez, Luis Alberto; Munoz-Barrera, Adrian; Lorenzo-Salazar, Jose Miguel; Flores, Carlos; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Wang, Yina; Rossi, Massimiliano; Visvanath, Arun; Murray, Lisa; Chen, Wei-Ting; Catreux, Severine; Han, James; Mehio, Rami; Parnaby, Gavin; Carroll, Andrew; Chang, Pi-Chuan; Shafin, Kishwar; Cook, Daniel; Kolesnikov, Alexey; Brambrink, Lucas; Mootor, Mohammed Faizal Eeman; Patel, Yash; Yamaguchi, Takafumi N.; Boutros, Paul C.; Sienkiewicz, Karolina; Foox, Jonathan; Mason, Christopher E.; Lajoie, Bryan R.; Ruiz-Perez, Carlos A.; Kruglyak, Semyon; Zook, Justin M.; Olson, Nathan D.
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Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium全基因组cfDNA筛查与诊断检测结果在大型拷贝数变异方面的一致性:全球扩展NIPT联盟的多中心研究
err2026-03-01
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errOAAI
errSoster, Erica; Dalton, Kristin; Bonifacio, Michael; Ellis, Katie Battese; Hardy, Tristan; Heddar, Abdelkader; Jurkowska, Monika; Kleinfinger, Pascale; Kulisic, Marizela; Loggenberg, Kelly; Menezes, Melody; Mori, Allesio; Savarese, Giovanni; Westover, Thomas; Bhatt, Sucheta
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Functional dissection of complex trait variants at single-nucleotide resolution在单核苷酸分辨率下对复杂性状变异的功能解析
errNature
IF48.5
err2026-02-25
err0
errOAAI
errLayla Siraj; Rodrigo I. Castro; Hannah B. Dewey; Susan Kales; John C. Butts; Thanh Thanh L. Nguyen; Masahiro Kanai; Daniel Berenzy; Kousuke Mouri; Qingbo S. Wang; Petko P. Fiziev; Kristin Tsuo; Zachary R. McCaw; Sager J. Gosai; François Aguet; Ran Cui; Irfahan Kassam; Jeremy McRae; Christopher M. Vockley; Caleb A. Lareau; Sergey Abramov; Alexandr Boystov; Jeff Vierstra; Yukinori Okada; Alexander Gusev; Thouis R. Jones; Eric S. Lander; Pardis C. Sabeti; Hilary K. Finucane; Steven K. Reilly; Jacob C. Ulirsch; Ryan Tewhey
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Interventional Genomics: Bridging Germline Diagnosis and Therapeutic Action
err2026-02-03
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PREAI
errPetros Giannikopoulos; Marlen C. Lauffer; Christian R. Marshall; Gregory Costain; Zhiyv Niu; David Bick; Wei Shen; Matthew C. Hiemenz; Sucheta Bhatt; Wayne Grody; Vaidehi Jobanputra
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Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants44,287名多血统受试者肺功能和COPD的全基因组序列分析
err2026-01-15
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errOAAI
errWonji Kim; Xiaowei Hu; Kangjin Kim; Sung Chun; Peter Orchard; Dandi Qiao; Ingo Ruczinski; Aabida Saferali; Francois Aguet; Lucinda Antonacci-Fulton; Pallavi P. Balte; Traci M. Bartz; Wardatul Jannat Anamika; Xiaobo Zhou; JunYi Duan; Jennifer A. Brody; Brian E. Cade; Martha L. Daviglus; Harshavadran Doddapaneni; Shannon Dugan-Perez; Susan K. Dutcher; Christian D. Frazar; Stacey B. Gabriel; Sina A. Gharib; Namrata Gupta; Brian D. Hobbs; Silva Kasela; Laura R. Loehr; Ginger A. Metcalf; Donna M. Muzny; Elizabeth C. Oelsner; Laura J. Rasmussen-Torvik; Colleen M. Sitlani; Joshua Smith; Tamar Sofer; Hanfei Xu; Bing Yu; David Zhang; John Ziniti; R. Graham Barr; April P. Carson; Myriam Fornage; Lifang Hou; Ravi Kalhan; Robert Kaplan; Tuuli Lappalainen; Stephanie J. London; Alanna C. Morrison; George T. O’Connor; Bruce M. Psaty; Laura M. Raffield; Susan Redline; Stephen S. Rich; Jerome I. Rotter; Edwin K. Silverman; Ani Manichaikul; Michael H. Cho
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Benchmarking the paediatric T-cell ALL subtype classifier, TALLSorts评估儿科T细胞急性淋巴细胞白血病亚型分类器TALLSorts
err2025-12-01
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errOAAI
errGulbey, Ozcan; James, Terena; Cranston, Ruth E.; Furmanczyk, Dagmara; Schwab, Claire; Lawson, Anna; Kearns, Pam; Vora, Ajay; Roels, Juliette; Van Vlierberghe, Pieter; Harrison, Christine J.; Ross, Mark T.; Enshaei, Amir; van Delft, Frederik W.; Moorman, Anthony V.
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Recurrent evolution of selfishness from an essential tRNA synthetase in Caenorhabditis tropicalis热带线虫 Caenorhabditis tropicalis 中自私性从一种必需的 tRNA 合成酶的重复进化
err2025-11-17
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errOAAI
errPolina Tikanova; James Julian Ross; Andreas Hagmüller; Florian Pühringer; Pinelopi Pliota; Daniel Krogull; Valeria Stefania; Manuel Hunold; Alevtina Koreshova; Anja Koller; Ivanna Ostapchuk; Jacqueline Okweri; Joseph Gokcezade; Peter Duchek; Gang Dong; Eyal Ben-David; Alejandro Burga
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Multi-omics analysis of a pig-to-human decedent kidney xenotransplant猪到人类逝者肾脏异种移植的多组学分析
errNature
IF48.5
err2025-11-13
err0
PREAI
errEloi Schmauch; Brian D. Piening; Alexa K. Dowdell; Maedeh Mohebnasab; Simon H. Williams; Alexey Stukalov; Fred L. Robinson; Robin Bombardi; Ian Jaffe; Karen Khalil; Jacqueline Kim; Imad Aljabban; Tal Eitan; Darragh P. O’Brien; Mercy Rophina; Chan Wang; Alexandra Q. Bartlett; Francesca Zanoni; Jon Albay; David Andrijevic; Berk Maden; Vincent Mauduit; Susanna Vikman; Diana Argibay; Zasha Zayas; Leah Wu; Kiana Moi; Billy Lau; Weimin Zhang; Loren Gragert; Elaina Weldon; Hui Gao; Lauren Hamilton; Larisa Kagermazova; Brendan R. Camellato; Divya Gandla; Riyana Bhatt; Sarah Gao; Rudaynah A. Al-Ali; Alawi H. Habara; Andrew Chang; Shadi Ferdosi; Han M. Chen; Jennifer D. Motter; Fiorella A. Chacon; Scott C. Thomas; Deepak Saxena; Robert L. Fairchild; Alexandre Loupy; Adriana Heguy; Ali Crawford; Serafim Batzoglou; Michael P. Snyder; Asim Siddiqui; Michael V. Holmes; Anita S. Chong; Minna U. Kaikkonen; Suvi Linna-Kuosmanen; David Ayares; Marc Lorber; Anoma Nellore; Edward Y. Skolnik; Aprajita Mattoo; Vasishta S. Tatapudi; Ryan Taft; Massimo Mangiola; Qian Guo; Ramin S. Herati; Jeffrey Stern; Adam Griesemer; Manolis Kellis; Jef D. Boeke; Robert A. Montgomery; Brendan J. Keating
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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes全基因组测序揭示了关于9p染色体综合征在个体和群体层面的见解
err2025-10-26
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errOAAI
errYingxi Wang; Eleanor I. Sams; Rachel Slaugh; Sandra Crocker; Emily Cordova Hurtado; Sophia Tracy; Ying-Chen Claire Hou; Christopher Markovic; Kostandin Valle; Victoria Tate; Khadija Belhassan; Elizabeth Appelbaum; Titilope Akinwe; Rodrigo T. Starosta; Yang Cao; Amber Neilson; Yu Liu; Nathaniel Jensen; Reza Ghasemi; Tina Lindsay; Juana Manuel; Sophia Couteranis; Milinn Kremitzki; Jack Ustanik; Thomas Antonacci; Jeffrey K. Ng; Andrew Emory; Laura Metz; Tracie DeLuca; Katherine N. Lyons; Toni Sinnwell; Brianne Thomeczek; Kymme Wang; Nick Sisneros; Megha Muraleedharan; Anantha Kethireddy; Marco Corbo; Harsha Gowda; Katherine A. King; Christina A. Gurnett; Susan K. Dutcher; Catherine Gooch; Yang E. Li; Matthew W. Mitchell; Kevin A. Peterson; Amjad Horani; Jill A. Rosenfeld; Weimin Bi; Pawel Stankiewicz; Hsiao-Tuan Chao; Jennifer E. Posey; Christopher M. Grochowski; Zain Dardas; Erik G. Puffenberger; Christopher E. Pearson; Frank Kooy; Dale Annear; A. Micheil Innes; Michael Heinz; Richard Head; Robert Fulton; Stephan Toutain; Lucinda Antonacci-Fulton; Xiaoxia Cui; Robi D. Mitra; F. Sessions Cole; Julie Neidich; Patricia I. Dickson; Jeffrey Milbrandt; Tychele N. Turner
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