A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

“…Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. …”
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Borrelia burgdorferi Tolerance-Associated Changes in Gene Expression of Murine Macrophages by Sophia Chen, Ricki Deng, Anis Hadi, Sara Nandwana, William Ryan, John B. Presloid, R. Mark Wooten

“…This study explores the transcriptional changes associated with macrophages that develop tolerance to Bb. Using RNA sequencing of murine bone marrow-derived macrophages exposed to Bb, we identified differentially expressed genes and dysregulated pathways between productively stimulated and tolerized macrophages. …”
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Evolution of the C-Type Lectin-Like Receptor Genes of the DECTIN-1 Cluster in the NK Gene Complex by Susanne Sattler, Hormas Ghadially, Erhard Hofer

“…Recent developments in sequencing and the availability of comprehensive sequence data comprising many species showed that the receptors of the DECTIN-1 cluster are not only homologous to each other but also highly conserved between species. …”
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Perineuronal nets in motor circuitry regulate the performance of learned vocalizations in songbirds by Xinghaoyun Wan, Angela S. Wang, Daria-Salina Storch, Vivian Y. Li, Jon T. Sakata

“…We also document that enzymatically degrading PNNs in the motor nucleus HVC acutely altered song structure (changes in syllable sequencing and production). Collectively, our data reveal a causal contribution of PNNs to the performance of learned behaviors and, given the parallels in the regulation of birdsong and speech, suggest that PNNs in motor circuitry could modulate speech performance.…”
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Impact of antibiotics, iron oxide, and sodium sulfate on microbial community composition in laboratory-built municipal solid waste microcosms. by Judy Malas, Sarah C Khoury, Michael Tanzillo, Gracie A Fischer, Jean E Bogner, D'Arcy R Meyer-Dombard

“…To circumvent the challenge of MSW heterogeneity, we conducted a 65-day time series study on simulated MSW microcosms to assess microbiome changes using 16S rRNA sequencing in response to 1) Fe(OH)3 and 2) Na2SO4 to represent redox active components of C&D waste as well as 3) antibiotics. …”
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Resistify: A Novel NLR Classifier That Reveals Helitron-Associated NLR Expansion in Solanaceae by Moray Smith, John T Jones, Ingo Hein

“…In plant genomes, NLRs exhibit considerable presence/absence variation and sequence diversity. Recent advances in sequencing technologies have made the generation of high-quality novel plant genome assemblies considerably more straightforward. …”
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An Efficient Genome Fragment Assembling Using GA with Neighborhood Aware Fitness Function by Satoko Kikuchi, Goutam Chakraborty

“…To decode a long genome sequence, shotgun sequencing is the state-of-the-art technique. …”
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Abnormal Decrease of Macrophage ALKBH5 Expression Causes Abnormal Polarization and Inhibits Osteoblast Differentiation by Junquan Weng, Haidong Fan, Huijuan Liu, Su Tang, Yuyan Zheng

“…In this study, we discovered that M1 macrophage polarization was abnormally enhanced in diabetic peri-implantitis and influenced the osteogenic differentiation of mesenchymal stem cells. RNA sequencing revealed that ALKBH5 expression was abnormally reduced in diabetic peri-implantitis. …”
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Investigation of Splicing Quantitative Trait Loci in by Wonseok Yoo, Sungkyu Kyung, Seonggyun Han, Sangsoo Kim

“…Here, we report the results of genome-wide sQTLs across 141 strains of Arabidopsis thaliana with publicly available next generation sequencing datasets. As a result, we found 1,694 candidate sQTLs in Arabidopsis thaliana at a false discovery rate of 0.01. …”
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Component library creation and pixel array generation with micromilled droplet microfluidics by David McIntyre, Diana Arguijo, Kaede Kawata, Douglas Densmore

“…Abstract Droplet microfluidics enable high-throughput screening, sequencing, and formulation of biological and chemical systems at the microscale. …”
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P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma by Sarah Bouri, Philippe Simon, Nicky D’Haene, Xavier Catteau, Jean-Christophe Noël

“…We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. …”
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Recurrent Multifocal Mycoplasma orale Infection in an Immunocompromised Patient: A Case Report and Review by Jeffrey Ketchersid, Jake Scott, Thomas Lew, Niaz Banaei, Shanthi Kappagoda

“…Purulent fluid drained from multiple sites did not yield a microbiologic diagnosis by standard culture technique, but Mycoplasma orale was ultimately identified using 16 S ribosomal RNA gene amplification and sequencing. We describe this unique case and review the literature.…”
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Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

“…She was found on whole exome sequencing (WES) to have dual genetic diagnoses. The first was a homozygous pathogenic HERC2 gene partial deletion of exons 43–45 that causes HERC2-related disorder. …”
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The compositional behavior of the human T cell receptor repertoire in ovarian cancer compared to healthy donors by Miriam Zuckerbrot-Schuldenfrei, Alona Zilberberg, Sol Efroni

“…The repertoire, famously vast due to a series of cellular mechanisms, can be quantified using repertoire sequencing. In this study, we sampled the repertoire of 85 women: ovarian cancer patients (OC) and healthy donors (HD), generating a dataset of T cell clones and their abundance. …”
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HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell by Grace Onimoe, Genine Smarzo

“…We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. …”
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A Novel Method for Functional Annotation Prediction Based on Combination of Classification Methods by Jaehee Jung, Heung Ki Lee, Gangman Yi

“…These huge sequences have greatly increased the need for analysis. …”
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Coinfection with Rickettsia helvetica and Herpes Simplex Virus 2 in a Young Woman with Meningoencephalitis by Kenneth Nilsson, Katarina Wallménius, Carl Påhlson

“…Further investigation in an ongoing project, using PCR and sequencing of the amplified products, showed the presence of Rickettsia helvetica in the cerebrospinal fluid. …”
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Genetic Architecture of Transcription and Chromatin Regulation by Kwoneel Kim, Hyoeun Bang, Kibaick Lee, Jung Kyoon Choi

“…DNA microarray and next-generation sequencing provide data that can be used for the genetic analysis of multiple quantitative traits such as gene expression levels, transcription factor binding profiles, and epigenetic signatures. …”
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A Case of Relapsing Peritoneal Dialysis-Associated Peritonitis by Dokdonella koreensis by Jamie Bee Xian Tan, Alvin Ren Kwang Tng, Htay Htay

“…There is a role for using 16S rRNA sequencing to help identify these organisms and guide patient management.…”
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Aquatic Plant Genomics: Advances, Applications, and Prospects by Shiqi Hu, Gaojie Li, Jingjing Yang, Hongwei Hou

“…Here, we summarize advances in aquatic plant genomics with a focus on molecular markers, the genes related to photosynthesis and stress tolerance, comparative study of genomes and genome/transcriptome sequencing technology.…”
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