Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell.

Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4×) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV, particularly pathogenic SV for supporting clinical diagnosis. When using 4× ONT WGS data, existing SV calling software often fails to detect pathogenic SV, especially in the form of long deletion, terminal deletion, duplication, and unbalanced translocation. Our new SV calling software SENSV can achieve high sensitivity for all types of SV and a breakpoint precision typically ± 100 bp; both features are important for clinical concerns. The improvement achieved by SENSV stems from several new algorithms. We evaluated SENSV and other software using both real and simulated data. The former was based on 24 patient samples, each diagnosed with a genetic disorder. SENSV found the pathogenic SV in 22 out of 24 cases (all heterozygous, size from hundreds of kbp to a few Mbp), reporting breakpoints within 100 bp of the true answers. On the other hand, no existing software can detect the pathogenic SV in more than 10 out of 24 cases, even when the breakpoint requirement is relaxed to ± 2000 bp.

Electronic transitions of platinum monoboride.

The electronic transition spectrum of platinum monoboride (PtB) radical has been observed for the first time. Using laser vaporization∕reaction free jet expansion and laser induced fluorescence spectroscopy, the optical spectrum of PtB in the visible region between 455 and 520 nm has been studied. Gas-phase PtB molecule was produced by the reaction of diborane (B(2)H(6)) seeded in argon and laser ablated platinum atom. Seven vibrational bands of the Pt(11)B radical have been recorded and analyzed. The observation of Pt isotopic molecules and the Pt(10)B isotope confirmed the carrier of the bands. Two different transition systems, namely: the [20.2]3/2-X(2)Σ(+) and the [21.2]1/2-X(2)Σ(+) systems were identified. PtB was determined to have an X(2)Σ(+) ground state and the bond length, r(e), was determined to be 1.741 Å.