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The ITER Cryostat- the largest austenitic stainless steel vessel provides ultra-cool environment for the ITER Vacuum vessel and the Superconducting Magnets. It weighs ~3500 t and measures up to ~29 meters in diameter and ~29 meters in height. Material of Construction is dual marked SS 304/304L and thickness varies from 25 mm to 200 mm. The Design, manufacturing and inspection of the cryostat is as per ASME Section VIII Division 2 with supplementary requirement of ITER. Due to large number of penetrations and transportation limitation at Site calls for the segmentation which results in number of subassemblies. Massive amount of welding deposition is required to join these subassemblies to fabricate the segment. ITER Specification for Cryostat demands stringent dimensional tolerance requirement (0.3% out of roundness) as compare to ASME. Other challenges are higher thickness weld joints in all position, space constraints, welding accessibility and stringent ITER vacuum requirements. Austenitic Stainless steel is prone to distortion due to low thermal conductivity and high coefficient of thermal expansion. This paper covers improvements done in the traditional welding process SAW, FCAW and to achieve dimension requirements and results are discussed. This paper also covers application NG Hot wire TIG for Site weld joints. In order to simulate the job conditions, mockup of 40o segment on base section and 60o segment for lower cylinder segment was performed for Welding & NDE feasibility, Welding sequence establishment for dimensional achievement. This paper also highlights the Learnings acquired from the mockups and implementation during manufacturing. [ABSTRACT FROM AUTHOR]

Background: The evaluation of gender-affirming facial feminization surgery (FFS) outcomes can be highly subjective, which has resulted in a limited understanding of the social perception of favorable gender and aesthetic facial appearance following FFS. Eye-tracking technology has introduced an objective measure of viewer subconscious gaze.Objectives: The aim of this study was to use eye-tracking technology to measure attention and perception of surgery-naive cisgender female and feminized transgender faces, based on viewer gender identity.Methods: Thirty-two participants (18 cisgender and 14 transgender) were enrolled and shown 5 photographs each of surgery-naive cisgender female and feminized transgender faces. Gaze was captured with a Tobii Pro X2-60 eye-tracking device (Tobii, Stockholm, Sweden) and participants rated the gender and aesthetic appearance of each face on Likert-type scales.Results: Total image gaze fixation time did not differ by participant gender identity (6.00 vs 6.04 seconds, P = 0.889); however, transgender participants spent more time evaluating the forehead/brow, buccal/mandibular regions, and chin (P < 0.001). Multivariate regression analysis showed significant associations between viewer gender identity, age, race, and education, and the time spent evaluating gender salient facial features. Feminized faces were rated as more masculine with poorer aesthetic appearance than surgery-naive cisgender female faces; however, there was no significant difference in the distribution of gender appearance ratings assigned to each photograph by cisgender and transgender participants.Conclusions: These results demonstrate that gender identity influences subconscious attention and gaze on female faces. Nevertheless, differences in gaze distribution did not correspond to subjective rated gender appearance for either surgery-naive cisgender female or feminized transgender faces, further illustrating the complexity of evaluating social perception of favorable FFS outcomes. [ABSTRACT FROM AUTHOR]

Abstract Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype. Methods We surveyed two loci with known rare variants that contribute to ASD, the X-linked neuroligin genes by performing massively parallel Illumina sequencing of the coding and noncoding regions from these genes in males from families with multiplex autism. We annotated all variant sites and functionally tested a subset to identify other rare mutations contributing to ASD susceptibility. Results We found seven rare variants at evolutionary conserved sites in our study population. Functional analyses of the three 3’ UTR variants did not show statistically significant effects on the expression of NLGN3 and NLGN4X. In addition, we identified two NLGN3 intronic variants located within conserved transcription factor binding sites that could potentially affect gene regulation. Conclusions These data demonstrate the power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation. However, they also point out the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects.

Abstract Background The enormous throughput and low cost of second-generation sequencing platforms now allow research and clinical geneticists to routinely perform single experiments that identify tens of thousands to millions of variant sites. Existing methods to annotate variant sites using information from publicly available databases via web browsers are too slow to be useful for the large sequencing datasets being routinely generated by geneticists. Because sequence annotation of variant sites is required before functional characterization can proceed, the lack of a high-throughput pipeline to efficiently annotate variant sites can act as a significant bottleneck in genetics research. Results SeqAnt (Sequence Annotator) is an open source web service and software package that rapidly annotates DNA sequence variants and identifies recessive or compound heterozygous loci in human, mouse, fly, and worm genome sequencing experiments. Variants are characterized with respect to their functional type, frequency, and evolutionary conservation. Annotated variants can be viewed on a web browser, downloaded in a tab-delimited text file, or directly uploaded in a BED format to the UCSC genome browser. To demonstrate the speed of SeqAnt, we annotated a series of publicly available datasets that ranged in size from 37 to 3,439,107 variant sites. The total time to completely annotate these data completely ranged from 0.17 seconds to 28 minutes 49.8 seconds. Conclusion SeqAnt is an open source web service and software package that overcomes a critical bottleneck facing research and clinical geneticists using second-generation sequencing platforms. SeqAnt will prove especially useful for those investigators who lack dedicated bioinformatics personnel or infrastructure in their laboratories.

The analysis of human whole-genome sequencing data presents significant computational challenges. The sheer size of datasets places an enormous burden on computational, disk array, and network resources. Here, we present an integrated computational package, PEMapper/PECaller, that was designed specifically to minimize the burden on networks and disk arrays, create output files that are minimal in size, and run in a highly computationally efficient way, with the single goal of enabling whole-genome sequencing at scale. In addition to improved computational efficiency, we implement a statistical framework that allows for a base by base error model, allowing this package to perform as well or better than the widely used Genome Analysis Toolkit (GATK) in all key measures of performance on human whole-genome sequences. [ABSTRACT FROM AUTHOR]