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Nature Methods|July 18, 2017
Genome-wide reconstruction of complex structural variants using read cloudsNoah Spies, Ziming Weng, Alex Bishara, et al.
BMC Genomics|January 17, 2016
svclassify: a method to establish benchmark structural variant callsHemang Parikh, Marghoob Mohiyuddin, Hugo Y K Lam, et al.
The Journal of Molecular Diagnostics : JMD|October 16, 2022
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation: A Joint Report of the Association for Molecular Pathology, Association for Pathology Informatics, and College of American PathologistsEric J Duncavage, Joshua F Coleman, Monica E de Baca, et al.
Genome Research|March 20, 2025
Unraveling the hidden complexity of cancer through long-read sequencingQiuhui Li, Ayse G Keskus, Justin Wagner, et al.
The Journal of Molecular Diagnostics : JMD|January 6, 2019
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic TestingStephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, et al.
Genome Biology|June 4, 2020
Assembly and annotation of an Ashkenazi human reference genomeAlaina Shumate, Aleksey V Zimin, Rachel M Sherman, et al.
Frontiers in Genetics|July 29, 2015
Best practices for evaluating single nucleotide variant calling methods for microbial genomicsNathan D Olson, Steven P Lund, Rebecca E Colman, et al.
Scientific Data|June 16, 2019
High-coverage, long-read sequencing of Han Chinese trio reference samplesYing-Chih Wang, Nathan D Olson, Gintaras Deikus, et al.
Biomolecular Detection and Quantification|April 15, 2016
International interlaboratory study comparing single organism 16S rRNA gene sequencing data: Beyond consensus sequence comparisonsNathan D Olson, Steven P Lund, Justin M Zook, et al.
Genome Biology|February 22, 2023
FixItFelix: improving genomic analysis by fixing reference errorsSairam Behera, Jonathon LeFaive, Peter Orchard, et al.
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