Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an additional 2% of the patients. The highest detection rate of (likely) causative variants was in patients with inherited retinal dystrophies, for instance a yield of 63% in patients with retinitis pigmentosa. In patients with developmental eye defects, cataract and optic atrophy, the detection rate was 50, 33 and 17%, respectively. An exome-sequencing approach enables a genetic diagnosis in patients with different types of inherited eye disorders using one test. The exome approach has the same detection rate as targeted panel sequencing tests, but offers a number of advantages. For instance, the vision gene panel can be frequently and easily updated with additional (novel) eye disorder genes. Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective

Production of aposporous gametophytes and calli from Pteris vittata L. pinnae strips cultured in vitro

10.1007/BF00232608Plant Cell Reports108392-393PCRP

Doubling speed using strained Si/SiGe CMOS technology

The benefit of high performance strained Si CMOS in terms of technology generations is quantified. It is shown that a 0.3 μm gate length strained Si/Si0.75Ge0.25 CMOS technology has the same gate delay as conventional technology having an effective gate length of 0.14 μm, but without the cost of re-tooling. Transconductance enhancements over conventional CMOS in excess of 200% are demonstrated for surface channel n- and p-MOSFETs using a Si0.75Ge0.25 virtual substrate without CMP and a high thermal budget process. To our knowledge these represent the best results reported to date at these dimensions

High-Performance nMOSFETs Using a Novel Strained Si/SiGe CMOS Architecture

Performance enhancements of up to 170% in drain current, maximum transconductance, and field-effect mobility are presented for nMOSFETs fabricated with strained-Si channels compared with identically processed bulk Si MOSFETs. A novel layer structure comprising Si/Si0.7Ge0.3 on an Si0.85Ge0.15 virtual substrate (VS) offers improved performance advantages and a strain-compensated structure. A high thermal budget process produces devices having excellent on/off-state drain-current characteristics, transconductance, and subthreshold characteristics. The virtual substrate does not require chemical-mechanical polishing and the same performance enhancement is achieved with and without a titanium salicide process

In vitro

Abstract Arsenic contamination of soils and groundwater is at present one of the major emergencies in the world environmental management, and phytoremediation is a promising technology to immobilize or remove contaminants from polluted areas. The first arsenic hyperaccumulating plant, the fern Pteris vittata, was discovered only recently. It is very efficient in extracting arsenic from the soil and translocating it into its large fronds, and thus has great potential in arsenic phytoremediation. In this work, by using different hormonal formulations, we developed solid and liquid in vitro culture protocols for callus induction and maintenance, as well as for sporophyte regeneration, which are the basic tools for programmes of screening and propagation of selected strains of the fern

Study of single- and dual-channel designs for high-performance strained-Si-SiGe n-MOSFETs

Results comparing strained-Si-SiGe n-channel MOSFET performance of single-and dual-surface channel devices fabricated using 15% Ge content SiGe virtual substrates are presented. Device fabrication used high thermal budget processes and virtual substrates were not polished. Mobility enhancement factors exceeding 1.6 are demonstrated for both single-and dual-channel device architectures compared with bulk-Si control devices. Single-channel devices exhibit improved gate oxide quality, and larger mobility enhancements, at higher vertical effective fields compared with the dual-channel strain-compensated devices. The compromised performance enhancements of the dual-channel devices are attributed to greater interface roughness and increased Ge diffusion resulting from the Si/sub 0.7/Ge/sub 0.3/ buried channel layer

Thermal oxidation of strained Si/SiGe: impact of surface morphology and effect on MOS devices

The performance of surface channel MOS devices depends on gate oxide interface quality. Carrier transport is enhanced in strained Si, thus its use for MOSFET channels can increase device performance. Thermal oxidation produces the highest quality SiO2. This paper compares thermal oxidation of strained Si with unstrained Si. Strained Si is achieved by epitaxial growth on relaxed SiGe. The impact of large-scale cross-hatching roughness inherent in relaxed SiGe alloys on strained Si oxidation is investigated. The nanoscale oxide interface roughness and oxidation rate of strained Si are found to correlate with the undulating cross-hatch period, increasing and decreasing, respectively, with the degree of surface vicinality. Further, analysis suggests strained Si oxidation kinetics arise primarily from local variations in the SiGe substrate orientation due to cross-hatching, rather than strain. Devices fabricated on relatively smooth SiGe material exhibit electrical performance enhancements exceeding 75% compared with devices fabricated on material with severe cross-hatching. Likely causes for the dependence of strained Si oxidation kinetics on surface morphology and the impact on MOS devices are discussed. The enhanced performance of strained Si/SiGe MOSFETs over Si control devices with equivalent oxide interface roughness is also presented. Strained Si devices exhibit mobility gains greater than 100% and significant increases in transconductance compared with control devices

High Performance Strained Si/SiGe nMOSFETs Using a Novel CMOS Architecture

No abstract available

High Performance Strained Si/SiGe nMOSFETs Using a Novel CMOS Architecture

No abstract available

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Contains fulltext : 174726.pdf (publisher's version ) (Open Access)Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an additional 2% of the patients. The highest detection rate of (likely) causative variants was in patients with inherited retinal dystrophies, for instance a yield of 63% in patients with retinitis pigmentosa. In patients with developmental eye defects, cataract and optic atrophy, the detection rate was 50, 33 and 17%, respectively. An exome-sequencing approach enables a genetic diagnosis in patients with different types of inherited eye disorders using one test. The exome approach has the same detection rate as targeted panel sequencing tests, but offers a number of advantages. For instance, the vision gene panel can be frequently and easily updated with additional (novel) eye disorder genes. Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective