Search

Annotating genomic sequence alterations is sometimes a difficult decision, particularly in missense variants with uncertain pathogenic significance and also in those presumed as germline pathogenic variants. We here suggest that mutation spectrum may also be useful for judging them. From the public databases, 982 BRCA1/1861 BRCA2 germline missense variants and 294 BRCA1/420 BRCA2 somatic missense variants were obtained. We then compared their mutation spectra, i.e., the frequencies of two transition‐ and four transversion‐type mutations, in each category. Intriguingly, in BRCA1 variants, A:T to C:G transversion, which was relatively frequent in the germline, was extremely rare in somatic, particularly breast cancer, cells (p =.03). Conversely, A:T to T:A transversion was most infrequent in the germline, but not rare in somatic cells. Thus, BRCA1 variants with A:T to T:A transversion may be suspected as somatic, and those with A:T to C:G as being in the germline. These tendencies of mutation spectrum may also suggest the biological and chemical origins of the base alterations. On the other hand, unfortunately, variants of uncertain significance (VUS) were not distinguishable by mutation spectrum. Our findings warrant further and more detailed studies. [ABSTRACT FROM AUTHOR]

We propose two-photon absorption light-induced self-written (LISW) waveguide formation using short-wavelength infrared pulse laser light. It is suitable and efficient for single-mode optical interconnection, and also promising for small-core single-mode optical interconnection. The approach offers the possibility of not only decreasing the insertion loss, but also reducing the interconnection task time. We assessed this approach for single-mode optical interconnection. We obtained an LISW waveguide loss of about 0.06 dB for an LISW waveguide length of 100 μ m and a connection loss per facet of about 0.37 dB. We also presented the results on the interconnection between high-numerical-aperture small-core thermally-diffused expanded-core single-mode fibers having the mode field diameters of about 3 μm by using the same approach. The results showed the present approach to be a promising alternative route for efficient interconnection of small-core single-mode optical devices, such as silicon nanowires with appropriate configurations. [ABSTRACT FROM AUTHOR]

The optical properties of inline optical components inserted at the input to a multimode optical fiber (MMF) strongly affect the propagating modal power distribution (MPD). To realize stable systems with predictable reproducible performance and to encourage widespread use of MMF systems, improvements to the system design process and to the characterization process need to be made and new interface standards need to be defined. To this end, we have developed a new reproducible MPD measurement and representation together with its theoretical definition. By modifying the encircled flux (EF) representation, which is based on the near-field pattern of a graded-index multimode optical fiber (GI-MMF), we define the encircled angular flux (EAF) for step-index multimode optical fibers (SI-MMFs) based on their far-field patterns (FFPs). Using a SI-MMF, which is used for low cost short distance interconnects, as an example, we show the changes in the MPD along the fiber, reveal an unusual insertion loss-increasing phenomenon due to the evanescent tails of the core modes extending into the cladding, and characterize the equilibrium mode distribution (EMD) in the fiber. The EAF representation enables these phenomena to be quantified. We also propose an EAF template that consists of the target EMD and its tolerance. If device system designers use the EAF template to set the launch conditions, they can perform a fair assessment of the components, and they can design the system performance even if some components are replaced with others from a different supplier manufactured by a different method. We call this concept “Total MPD Management.” [ABSTRACT FROM PUBLISHER]