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Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Msystems|October 17, 2025
DNA reference reagents isolate biases in microbiome profiling: a global multi-lab studySaba Anwar, Matthew Lamaudiere, Jack Hassall, et al.
JAMA Surgery|June 30, 2021
Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review, Alexandra M Zaborowski, Ahmed Abdile, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Diagnostic and Prognostic Research|May 17, 2019
Erratum to: Methods for evaluating medical tests and biomarkersGowri Gopalakrishna, Miranda Langendam, Rob Scholten, et al.
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