Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

“…The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals. …”
Get full text

Genome constitution and differentiation of subgenomes in Siberian and Far Eastern endemic species of the genus Elymus (Poaceae) according to the sequencing of the nuclear gene waxy by A. V. Agafonov, S. V. Asbaganov, E. V. Shabanova (Kobozeva), I. V. Morozov, A. A. Bondar

“…Cluster phylogenetic analysis revealed differentiation in St and H subgenome sequences into two evolutionary variants: St1 vs. St2 and H1 vs. …”
Get full text

From Traditional Typing to Genomic Precision: Whole-Genome Sequencing of <i>Listeria monocytogenes</i> Isolated from Refrigerated Foods in Chile by Julio Parra-Flores, Beatriz Daza-Prieto, Pamela Chavarria, Miriam Troncoso, Anna Stöger, Guillermo Figueroa, Jetsi Mancilla-Rojano, Ariadnna Cruz-Córdova, Aleksandra Martinovic, Werner Ruppitsch

Subjects: Get full text

Molecular Identification of Necrophagous Muscidae and Sarcophagidae Fly Species Collected in Korea by Mitochondrial Cytochrome c Oxidase Subunit I Nucleotide Sequences by Yu-Hoon Kim, Sang Eon Shin, Chan Seon Ham, Seong Yoon Kim, Kwang Soo Ko, Tae-Ho Jo, Gi Hoon Son, Seong Hwan Park, Juck-Joon Hwang

“…After DNA extraction from collected flies, PCR amplification and automatic sequencing of the whole COI sequence were performed. …”
Get full text

Combining Individual‐Based Radio‐Tracking With Whole‐Genome Sequencing Data Reveals Candidate for Genetic Basis of Partial Migration in a Songbird by Matthias H. Weissensteiner, Kira Delmore, Valentina Peona, Juan Sebastian Lugo Ramos, Gregoire Arnaud, Julio Blas, Bruno Faivre, Ivan Pokrovsky, Martin Wikelski, Jesko Partecke, Miriam Liedvogel

“…We generated whole‐genome sequencing data for 60 individuals, each of which was phenotyped for migratory behavior using radio‐telemetry tracking. …”
Get full text

Single‐Nucleus RNA Sequencing Reveals That Gabra6+ Neurons in Prefrontal Cortex Promote the Progression of PTSD After Shockwave‐Induced TBI by Xiaowei Fei, Zehan Zhang, Ya‐nan Dou, Weihao Lv, Hongqing Chen, Li Wang, Xin He, Wangshu Chao, Peng Luo, Zhou Fei

Subjects: Get full text

Assessment of the Diversity of Tomato (Solanum Lycopersicum L.) Accessions in the Nigeria National Gene Bank Using Simple Sequence Repeat (SSR) Markers by Olabisi Olajire, Olusola Oduoye, Zainab Jamaleddine, Olatunde Fajimi, David Coker, Abiodun Sunday, Opeyemi Oluwasanya, Best Anukwu, Abiodun Ogundele, Omowumi Ayekun, Yetunde Amos

“…This study aims to assess the genetic diversity of tomato accessions in the Nigeria gene bank using Simple Sequence Repeat (SSR) markers. DNA was extracted from fifty tomato accessions using the CTAB protocol. …”
Get full text

Integrated analysis of M2 macrophage-related gene prognostic model and single-cell sequence to predict immunotherapy response in lung adenocarcinoma by Meifang Li, Zhiping Wang, Bin Huang, Yanyun Lai, Meng Zhang, Cheng Lin

Get full text

Testing Phylogenetic Placement Accuracy of DNA Barcode Sequences on a Fish Backbone Tree: Implications of Backbone Tree Completeness and Species Representation by M. A. Thanuja M. Fernando, Jinzhong Fu, Sarah J. Adamowicz

“…ABSTRACT Advancements in DNA sequencing technology have facilitated the generation of a vast number of DNA sequences, posing opportunities and challenges for constructing large phylogenetic trees. …”
Get full text

Comparative enrichment of complete ammonium oxidation bacteria in floccular sludge reactors: Sequencing batch reactor vs. continuous stirred tank reactor by Ying Zhu, Jiaying Hou, Fangang Meng, Meiying Xu, Limin Lin, Linyan Yang, Xueming Chen

Subjects: Get full text

Bioinformatics combining machine learning and single-cell sequencing analysis to identify common mechanisms and biomarkers of rheumatoid arthritis and ischemic heart failure by Ziyi Sun, Jianguo Lin, Xiaoning Sun, Zhangjun Yun, Xiaoxiao Zhang, Siyu Xu, Jinlong Duan, Kuiwu Yao

“…This study analyzed RNA sequencing data from five RA and IHF datasets to identify common biological mechanisms and significant biomarkers. …”
Get full text

Plasma mcfDNA Sequencing May Improve Usual Care Diagnostics to Detect HHV-8 Among Outpatient People with Advanced HIV by Sarah Park, Brian Epling, Morgan Richey, Daniel Lupu, Mona Mughar, Irini Sereti

“…The potential added benefit of the detection of other pathogens by mcfDNA sequencing may be particularly relevant for this population. …”
Get full text

Combined metabolomics and 16S rDNA sequence analyses of the gut microbiome reveal the action mechanism of Fructus Akebiae against hepatic fibrosis by Rong-Rong Wu, Duo-Rui Nie, Fang-Hui He, Zhi-Hang Li, Fei Xu, Fei Xu, Fei Xu

Subjects: Get full text

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons by Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen

“…In order to understand the functions of splice site sequences on exon 7 and 8, we analyzed the effects of conserved splice site sequences on exon 7 skipping of SMN2 and SMN1 pre-mRNA. …”
Get full text

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema by Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal

“…Interestingly, both the individual’s 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members. …”
Get full text

Biological effectiveness of combined exposure to neutrons and gamma radiation applied in two orders of sequence: Relevance for biological dosimetry after nuclear emergencies by Tomas Palmqvist, Milagrosa Lopez-Riego, Martin Bucher, Ursula Oestreicher, Stefan Pojtinger, Ulrich Giesen, Iuliana Toma-Dasu, Andrzej Wojcik

“…Conclusions: The results demonstrate that combined exposure to neutrons and gamma radiation, regardless of the order of sequence, leads to an additive response at both endpoints. …”
Get full text

Avirulence depletion assay: Combining R gene-mediated selection with bulk sequencing for rapid avirulence gene identification in wheat powdery mildew. by Lukas Kunz, Jigisha Jigisha, Fabrizio Menardo, Alexandros G Sotiropoulos, Helen Zbinden, Shenghao Zou, Dingzhong Tang, Ralph Hückelhoven, Beat Keller, Marion C Müller

“…This assay relies on the selection of a segregating, haploid F1 progeny population on a resistant host, followed by bulk sequencing, thereby allowing rapid avirulence candidate gene identification with high mapping resolution. …”
Get full text

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder by Chuphong Thongnak, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert, Chonlaphat Sukasem

“…The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. …”
Get full text

COMPARISON OF THE COMPLETE NUCLEOTIDE SEQUENCES OF MITOCHONDRIAL DNA FROM WISTAR AND OXYS RAT STRAINS MAINTAINED AT THE INSTITUTE OF CYTOLOGY AND GENETICS SB RAS by R. A. Maksyutov, E. V. Gavrilova, T. S. Nepomniashchikh, U. N. Rotskaya, P. S. Loshchenova, N. G. Kolosova, O. I. Sinitsyna, S. N. Shchelkunov

“…The nucleotide sequences were submitted to GenBank. It was shown that two additional unique nucleotide substitutions between rats OXYS (ICG) and Wistar (ICG) were absent from other known nucleotide sequences of rat mitochondrial DNA of rats and that they did not cause amino acid substitutions, so that all phenotypic differences between the lines were determined only by differences in their nuclear DNA. …”
Get full text

Effect of Welding Sequence and Constraint on the Residual Stress and Deformation of Thick Welded Butt Joint Made of Q345qD Steel by Yi Zhang, Wenxue Su, Hua Dong, Tao Li, Hongyou Cao

“…After the finite element model was verified against the experimental results, the effects of five welding sequences and two types of boundary constraint conditions on the residual stress and deformation of the thick welded butt joints were investigated. …”
Get full text