Articleposted 2025-09-23 07:39:53
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu, Chong Ae Kim, Masatoshi Tokita, Yohane Miyata, Nobuhiko Okamoto, Yoshio Makita, Hitoshi Osaka, and 29 more authors
Under Review
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Articleposted 2025-09-09 09:56:01
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study
Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, Erin Tutty, Yvonne Bombard, Marc Clausen, and 5 more authors
Under Review
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Articleposted 2025-08-22 10:28:29
Whole genome profiling of 400 patients at risk for hereditary cancer in a Brazilian cohort
Ana Camila Mendes Andrade, Angelina Xavier Acosta, Taisa Manuela Bonfim Machado Lopes, Ivana Lucia Oliveira Nascimento, Maria Betânia Pereira Toralles, Larissa Souza Mario Bueno, Thamara Claudia Melo Ferreira, and 4 more authors
Under Revision
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Articleposted 2025-05-19 13:03:59
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration
Riccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, Emily M. Place, Julien Navarro, Christel Condroyer, Stephanie DiTroia, and 4 more authors
Under Review
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Articleposted 2025-03-13 07:50:48
Improving Polygenic Risk Score Based Drug Response Prediction Using Transfer Learning
Youshu Cheng, Song Zhai, Wujuan Zhong, Rachel Marceau West, Judong Shen
Published
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Articleposted 2024-11-27 06:37:03
Genomics on FHIR – A Feasibility Study of an interoperable genomics dataset to support the German National Strategy for Genomic Medicine
Nina Haffer, Caroline Stellmach, Julian Sass, Michael R Muzoora, Adam SL Graefe, Sylvia Thun, Carina N Vorisek
Published
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Articleposted 2024-11-20 11:29:14
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis in an assisted reproductive center
Yuan Gao, Qian Sun, Peiwen Xu, Aiping Mao, Sexin Huang, Jie Li, Libao Chen, and 7 more authors
Published
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Articleposted 2024-10-16 08:30:17
The Genomic Medicine for Everyone (Geno4ME) Study: Implementation of Whole Genome Sequencing for Population Screening in a Large Healthcare System
Ora Gordon, Isabelle Lucas Beckett, Kate Emery, Josiah Wagner, Kathleen Jade, Benjamin Cosgrove, John Welle, and 26 more authors
Published
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Articleposted 2024-06-12 19:57:22
Policy and process for returning raw genomic data to parents and young adult participants in a pediatric cancer precision medicine trial.
Jane Nielsen, Carolyn Johnston, David Ziegler, Andrew Wood, Meera Warby, Vanessa Tyrrell, Katherine Tucker, and 21 more authors
Published
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Articleposted 2024-03-13 17:14:35
Identification of deep intronic variants in junctional epidermolysis bullosa using whole genome sequencing and splicing assays
Ming Li, Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, and 3 more authors
Published
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