Two-Dimensional Laser Melting of Lunar Regolith Simulant Using the MOONRISE Payload on a Mobile Manipulator.

Laser melting experiments were carried out with the MOONRISE payload, installed on the mobile manipulator, MIRA3D. The MOONRISE payload was developed to demonstrate the feasibility of additive processing of lunar regolith with the help of lasers on the Moon within a lunar surface mission in the next years. The development of hardware for the flight to the moon is well advanced and, if successful, would pave the way for the use of laser melting for production of components from regolith.

Mutalyzer 2: next generation HGVS nomenclature checker.

Motivation: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. We present the implementation of the Mutalyzer 2 tool suite, designed to automatically apply the HGVS guidelines so users do not have to deal with the HGVS intricacies explicitly to check and correct their variant descriptions.

Recommended Guidelines for Validation, Quality Control, and Reporting of Variants in Clinical Practice.

Accurate assessment of gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors.

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Single-nucleotide variants (SNVs) are the most frequent genetic changes found in human cancer. Most driver alterations are missense and nonsense variants localized in the coding region of cancer genes. Unbiased cancer genome sequencing shows that synonymous SNVs (sSNVs) can be found clustered in the coding regions of several cancer oncogenes or tumor suppressor genes suggesting purifying selection.

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of "Clinical Interpretation of Variants from Next-Generation Sequencing.