Serine is the molecular source of the NH(CH2)2 bridgehead moiety of the in vitro assembled [FeFe] hydrogenase H-cluster

The CH2NHCH2 bridgehead moiety of the [FeFe] hydrogenase H-cluster is derived from serine as revealed by isotope labeling and EPR spectroscopy.

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

MotivationIn genomic medicine for rare disease patients, the primary goal is to identify one or more variants that cause their disease. Typically, this is done through filtering and then prioritization of variants for manual curation. However, prioritization of variants in rare disease patients remains a challenging task due to the high degree of variability in phenotype presentation and molecular source of disease. Thus, methods that can identify and/or prioritize variants to be clinically reported in the presence of such variability are of critical importance.ResultsWe tested the application of classification algorithms that ingest variant predictions along with phenotype information for predicting whether a variant will ultimately be clinically reported and returned to a patient. To test the classifiers, we performed a retrospective study on variants that were clinically reported to 237 patients in the Undiagnosed Diseases Network. We treated the classifiers as variant prioritization systems and compared them to another variant prioritization algorithm and two single-measure controls. We showed that these classifiers outperformed the other methods with the best classifier ranking 73% of all reported variants and 97% of reported pathogenic variants in the top 20.AvailabilityThe scripts used to generate results presented in this paper are available at https://github.com/HudsonAlpha/[email protected]

Functionalization of the Si(1 1 1) 7 × 7 substrate with coronene molecules using simple molecular source

The present paper aims at describing a source designed and constructed to generate an organic molecular beam under ultrahigh vacuum conditions. The presented construction solution of the evaporation source allows for independent deposition of three different kinds of molecules. The probability of molecules fragmentation is minimized by using a thermocouple being in contact with a molecular crucible, which enables precise temperature control. In addition, cleanness and molecular beam density are monitored using a quadrupole mass spectrometer and quartz microbalance, respectively. The operational parameters of the molecular source are optimized and deposition rates are measured for the coronene molecule in the sublimation temperature range between 430 K and 460 K. The analysis of scanning tunneling microscope images of the Si(1 1 1) 7 × 7 substrate covered with the sub-monolayer of coronene molecules and comparison with previously published data has been used for verification of the molecular source operation.