Guest Editors:
Soren Brunak: University of Copenhagen, Denmark
Hannah Carter: University of California San Diego, USA
John Moult: University of Maryland, USA
This collection is no longer accepting submissions.
The journals Human Genetics and Human Genomics are calling for submissions to report on the 6th edition of the Critical Assessment of Genome Interpretation (CAGI).
Variant interpretation is essential for identifying patients’ disease-causing genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact Predictors (VIPs), also known as Varian...
We describe the machine learning tool that we applied in the CAGI 6 experiment to predict whether single residue mutations in proteins are deleterious or benign. This tool was trained using only single sequenc...
A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturi...
Systematically predicting the effects of mutations on protein fitness is essential for the understanding of genetic diseases. Indeed, predictions complement experimental efforts in analyzing how variants lead ...
In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico p...
Mitogen-activated protein kinases 1 and 3 (MAPK1 and MAPK3), also called extracellular regulated kinases (ERK2 and ERK1), are serine/threonine kinase activated downstream by the Ras/Raf/MEK/ERK signal transduc...
The journals Human Genetics and Human Genomics jointly invite contributions that report on the 6th edition of the Critical Assessment of Genome Interpretation (CAGI). The papers will be published in a special collection embodying manuscripts from both journals. Submissions may include challenge assessment reports, descriptions of challenge datasets, original characterizations of methods and their performance in CAGI, as well as manuscripts about ethical considerations and works regarding future perspectives and policy. Contributions should have the breath of impact typical for these journals.
CAGI aims to establish the state of the art in the field of interpreting genomic variation. CAGI conducts periodic experiments with blind prediction, rigorous assessment, and extensive dissemination of outcomes. CAGI recognizes the best prediction methodology strategies, highlighting innovation and identifying bottlenecks that prevent the field from advancing. For the user community, CAGI offers trustworthy information about the most appropriate methods for a particular research or clinical application, and the best way to use the methods.
More details about the CAGI experiment is available here.
Articles for this Collection should be submitted either to Human Genetics or Human Genomics. During the submission process you will be asked whether you are submitting to a Collection/Thematic Series, please select "CAGI 6: Critical Assessment of Genome Interpretation, Sixth Edition" from the dropdown menu.
Before submitting your manuscript, please ensure you have read the submission guidelines of the journal you are submitting to Human Genetics and Human Genomics.
Articles will undergo the standard peer-review process of the journal they are considered in and are subject to BMC and Springer editorial policies. Articles will be added to the Collection as they are published.
The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.