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Nature Communications|September 23, 2020
A diploid assembly-based benchmark for variants in the major histocompatibility complexChen-Shan Chin, Justin Wagner, Qiandong Zeng, et al.The Journal of Molecular Diagnostics : JMD|March 20, 2017
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical SettingsIra M Lubin, Nazneen Aziz, Lawrence J Babb, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.Nature Biotechnology|September 10, 2021
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing StudyJonathan Foox, Scott W Tighe, Charles M Nicolet, et al.Nature Communications|January 8, 2025
Small variant benchmark from a complete assembly of X and Y chromosomesJustin Wagner, Nathan D Olson, Jennifer McDaniel, et al.Nature Biotechnology|August 14, 2019
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genomeAaron M Wenger, Paul Peluso, William J Rowell, et al.Nature Biotechnology|July 21, 2020
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomesKishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, et al.Nature|July 1, 2026
Harmonizing standards and resources for the medical genomeEuan A Ashley, Ash A Alizadeh, Hanae Armitage, et al.Science (New York, N.Y.)|March 31, 2022
A complete reference genome improves analysis of human genetic variationSergey Aganezov, Stephanie M Yan, Daniela C Soto, et al.Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.Pageof 12