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NEW YORK (GenomeWeb) – The American College of Medical Genetics and Genomics is working on a first update to its gene list for reporting secondary findings from exome or genome sequence data with the aim of finalizing the revisions by the end of the year, GenomeWeb has learned.

In addition, an ACMG committee tasked with the update has been looking into how pharmacogenomics genes can be added to the list without unduly burdening clinical labs reporting the results, but PGx genes will only be implemented in future updates.

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The Guardian reports that visa costs could prevent scientists and others from coming to the UK.

The Trump Administration is reconsidering its plan to issue an executive order to require federally funded research to be freely available upon publication, Times Higher Education reports.

Nature News says some preprint repositories may close down due to a lack of funds to cover costs.

In Nature this week: framework for analyzing cancer mutational signatures, treatment resistance in small cell lung cancer followed by increased intratumoral heterogeneity, and more.

Feb
25
Sponsored by
Loop Genomics

This webinar will discuss a study that used long-read transcriptome sequencing to explore the distribution of isoforms in colon cancer samples and their metastasis counterparts. 

Feb
26
Sponsored by
Autogen

This webinar will explain how the Clinic for Special Children in Strasburg, Pennsylvania, has transformed its DNA workflows to improve the diagnosis and treatment of genetic illnesses that are prevalent in the pediatric population of its community.

Feb
27
Sponsored by
Stilla

Since the publication of the “The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments” (dMIQE) in 2013, there has been a large expansion of the applications of dPCR such as single nucleotide variations (SNVs) and copy number variations (CNVs) measurements associated with disease diagnostics.

Mar
18
Sponsored by
Roche

This webinar will discuss data from a recent real-world comparison study evaluating performance of two cell-free DNA methodologies as first-line prenatal screens.