The Reference Material Forum at AMP 2026 is one month away. Solvuu's CSO @raj_sasidharan7 will present "Truth-Defined, Assay-Matched In Silico Reference Materials for Hard-to-Source Variant Classes." See you in Seattle! amp2026.eventscribe.net/agen…

"While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve." That was Rehder et al. in ACMG's 2021 technical standard on NGS. Do you work in a genetics lab? What challenges do you still face in bringing your tests to market, from development and validation to regulatory review and commercial deployment? nature.com/articles/s41436-0…

Molecular diagnostic laboratories may have 1 to 2 bioinformaticians or teams of 10 to 20 or more. @sabahkadri, @asbonerw, and colleagues (J Mol Diagn. 2025) wrote that pipeline design depends on assay, technology, and specimen type, and that bioinformaticians are included in the build-versus-buy decision. They present an initial framework. A single person will not have the full list of skills. Webinar on Sep 23rd. jmdjournal.org/article/S1525…

AMP’s Molecular Diagnostics Core puts bioinformaticians in all four phases of test development: familiarization; design, development, and optimization; analytical validation; and the quality-management system. Leon et al. (J Mol Diagn. 2025) present an initial framework, not a standard of practice. jmdjournal.org/article/S1525…

AMP defined a clinical bioinformatician as someone who develops, validates, and deploys pipelines in a regulated clinical laboratory, not a research setting. @roysomak4 and colleagues (J Mol Diagn. 2025) wrote that definition as three knowledge cores and an initial framework. A single person will not have all of the skills. jmdjournal.org/article/S1525…

The AMP 2026 Reference Material Forum program is now posted. This November will be our fourth AMP, and the first time @solvuu is presenting. @raj_sasidharan7, our CSO, is speaking. I will be there too! See the program here: amp2026.eventscribe.net/agen…

Publicly available physical reference materials cover only 29.4% of variants on two expert-curated germline lists. @roysomak4 et al. write that in silico mutagenized files can be a valuable supplement to physical samples. jmdjournal.org/article/S1525…