ACED: Accelerated Computational Electrochemical systems Discovery

Large-scale electrification is vital to addressing the climate crisis, but many engineering challenges remain to fully electrifying both the chemical industry and transportation. In both of these areas, new electrochemical materials and systems will be critical, but developing these systems currently relies heavily on computationally expensive first-principles simulations as well as human-time-intensive experimental trial and error. We propose to develop an automated workflow that accelerates these computational steps by introducing both automated error handling in generating the first-principles training data as well as physics-informed machine learning surrogates to further reduce computational cost. It will also have the capacity to include automated experiments "in the loop" in order to dramatically accelerate the overall materials discovery pipeline.Comment: 4 pages, 1 figure, accepted to NeurIPS Climate Change and AI Workshop 2020, updating acknowledgements and citation

A case of Raine syndrome presenting with facial dysmorphy and review of literature

Abstract Background Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype. Clinical diagnosis of RS has been done through facial appearance and radiological findings, while confirmatory diagnosis has been conducted through a molecular study of the FAM20C gene. Case presentation A 6-year-old girl was born to healthy third degree consanguineous parents. She presented with facial dysmorphy, delayed speech, and delayed cognition. Radiography showed small sclerotic areas in the lower part of the right femur, and an abnormally-shaped skull with minimal sclerosis in the lower occipital region. Computer tomography scan of the brain revealed mild cortical atrophy, and MRI scan of the brain showed corpus callosal dysgenesis with the absence of the rostral area. Chromosome banding at 500 band resolution showed a normal female karyotype. No quantitative genomic imbalance was detected by aCGH. Further study conducted using Clinical Exome Sequencing identified a homozygous missense variation c.1228 T > A (p.Ser410Thr) in the exon 6 of FAM20C gene – a likely pathogenic variant that confirmed the clinical diagnosis of RS. The variant was confirmed in the proband and her parents using Sanger sequencing. Prenatal diagnosis during subsequent pregnancy revealed heterozygous status of the fetus, and a normal carrier child was delivered at term. Conclusions The syndrome revealed markedly variable presentations such as facial dysmorphy and developmental delay, and was localized to diffuse bone osteosclerosis. Clinical indications, striking radiological findings and molecular testing of FAM20C gene confirmed the diagnosis of RS. A rarity of the disorder and inconsistent phenotype hindered the establishment of genotype-phenotype correlations in RS. Therefore, reporting more cases and conducting further research would be crucial in defining the variable radiologic and molecular defects of the lethal and non-lethal forms of this syndrome

Additional file 1: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Molecular investigations. The file describes the method used in isolation of genomic DNA, NGS and bioinformatics tools used during analysis. (DOCX 16 kb

Additional file 5: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Population screening for c.1228T>A (p.Ser410Thr) variant by ARMS-PCR. The file provides details of normal healthy individuals studied for variant (c.1228T>A (p.Ser410Thr)) by ARMS-PCR. (DOCX 15 kb

Additional file 3: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Homology modeling, structure validation and protein stability due to c.1228T>A (p.Ser410Thr) variant. File describes the influence of variant change on the protein structure (DOCX 16 kb

Additional file 2: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Sanger sequencing (Variant Confirmation Test). It describes the details of primer’s used during Sanger sequencing of the proband and parents (DOCX 15 kb

Additional file 4: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Conservation of the FAM20C p.Ser410Thr residue in orthologs. Conservation of the variant in orthologs and Homo sapiens. (DOCX 15 kb

AutoMat: Automated materials discovery for electrochemical systems

Abstract Large-scale electrification is vital to addressing the climate crisis, but several scientific and technological challenges remain to fully electrify both the chemical industry and transportation. In both of these areas, new electrochemical materials will be critical, but their development currently relies heavily on human-time-intensive experimental trial and error and computationally expensive first-principles, mesoscale, and continuum simulations. We present an automated workflow, AutoMat, which accelerates these computational steps by introducing both automated input generation and management of simulations across scales from first principles to continuum device modeling. Furthermore, we show how to seamlessly integrate multi-fidelity predictions, such as machine learning surrogates or automated robotic experiments “in-the-loop.” The automated framework is implemented with design space search techniques to dramatically accelerate the overall materials discovery pipeline by implicitly learning design features that optimize device performance across several metrics. We discuss the benefits of AutoMat using examples in electrocatalysis and energy storage and highlight lessons learned. Graphical abstrac