Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. …”
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Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes by Ali Tawbeh, Catherine Gondcaille, Fatima-Ezzahra Saih, Quentin Raas, Damien Loichot, Yannick Hamon, Céline Keime, Alexandre Benani, Francesca Di Cara, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary

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DNA Copy Number Changes at 8q11–24 in Metastasized Colorectal Cancer by T. E. Buffart, J. Coffa, M. A. J. A. Hermsen, B. Carvalho, J. R. M. van der Sijp, B. Ylstra, G. Pals, J. P. Schouten, G. A. Meijer

“…This observation is consistent with the concept that clinical behaviour, like risk of liver metastasis, is determined by the genomic profile that is already present in the primary tumor.…”
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Host–virus interactions during infection with a wild-type ILTV strain or a glycoprotein G deletion mutant ILTV vaccine strain in an ex vivo system by Gayathri Gopakumar, Mauricio J.C. Coppo, Andrés Diaz-Méndez, Carol A. Hartley, Joanne M. Devlin

“…This study extends our understanding of the early and localized host–ILTV interactions using genome-wide transcriptome analysis of ILTV-infected chicken tracheal organ cultures, and the role of gG during the process. …”
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Potential pathogenic and protective genotypes and phenotypes of vitamin D binding protein in multiple sclerosis by Suhail Al-Shammri, Suhail Al-Shammri, Arpita Chattopadhyay, Abu Salim Mustafa

“…This study investigated frequencies of GC genotypes and phenotypes in Kuwaiti multiple sclerosis (MS) patients and healthy controls, and their associations with serum levels of 25 hydroxyvitamin D [25(OH)vitamin D] and VDBP.MethodsThe genomic DNA was isolated from blood samples of drug-naïve MS patients (N = 151) and controls (N = 127). …”
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Molecular characterization of ST15 carbapenem-resistant Klebsiella pneumoniae isolated in a single patient by Yongjin Hu, Rong Tang, Shanshan Jin, Jiahao Guan, Xiaoxiao Meng, Zengpeijie Dan, Ruilan Wang, Hong-Yu Ou, Jian Lu

“…Pulsed-field gel electrophoresis (PFGE) was used to investigate the homology relationship between the strains. The whole genome sequencing and phylogenetic analysis of 9 representative isolates was also performed. …”
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Development of a set of monosomic alien addition lines from Gossypium raimondii in Gossypium hirsutum toward breeding applications in cotton by Zhenzhen Xu, Xiaoxi Lu, Wenjie Ding, Wei Ji, Wuzhimu Ali, Heyang Wang, Shan Meng, Qi Guo, Peng Xu, Xianglong Chen, Liang Zhao, Huan Yu, Xinlian Shen

“…These MAALs will provide important genetic bridge materials for gene transfer from G. raimondii as well as for the study of Gossypium species genomes and their evolution. Conclusions A set of Gossypium hirsutum - Gossypium raimondii MAALs were developed and they showed abundant variation in morphological, agronomic, yield, and fiber quality traits, as well as in drought and salt resistance at seedling stage.…”
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Application of molecular approach in combination with providing treatment and control measures for combating Babesia bovis and Babesia bigemina infections in small scale livestock... by Nutsuda Klinkaew, Pairpailin Jhaiaun, Giang Thi Nguyen, Ruttayaporn Ngasaman, Domechai Keawnoi, Niorn Rattanapob, Pipat Arunvipas, Meyanee Kanjanaphan, Nuttapon Manojai, Suwitcha Panchakhan, Julaluk Jaiboon, Piyavadee Numnual, Prattana Tong-in, Thongphanchang Khanthong, Paween Srirarai, Chutima Chantarakot, Pattarakitti Noenchat, Jaroonwit Napornram, Somtat Yangsuk, Tanakrit Cham-iam, Phuncharat Nilsuwan, Supicha Jindarut, Kanokrat Boonyok, Nipa Thammasonthijarern, Wissanuwat Chimnoi, Tawin Inpankaew, Burin Nimsuphan, Jumnongjit Phasuk, Ketsarin Kamyingkird

“…Dairy and beef cattle blood samples were collected, genomic DNA were extracted and nested PCRs were performed. …”
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Novel predictive biomarkers for atonic postpartum hemorrhage as explored by proteomics and metabolomics by Jiangxue Qu, Hai Jiang, Huifeng Shi, Nana Huang, Jiawen Su, Yan Zhang, Lian Chen, Yangyu Zhao

“…Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) functional enrichment analysis of significantly differentially expressed proteins revealed that atonic PPH was associated with T cell- and macrophage-related immune inflammatory responses. …”
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Potential drug targets for asthma identified through mendelian randomization analysis by Xingxuan Chen, Yu Shang, Danting Shen, Si Shi, Zhe Wen, Lijuan Li, Hong Chen

“…In this study, we aimed to identify new treatment targets for asthma using the Mendelian randomization method and large-scale genome-wide association data (GWAS). Methods We utilized GWAS data from the UK Biobank (comprising 56,167 patients and 352,255 control subjects) and the FinnGen cohort (including 23,834 patients and 228,085 control subjects). …”
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Tumor mutational burden and survival on immune checkpoint inhibition in >8000 patients across 24 cancer types by Vivek Subbiah, Samuel J Klempner, Neeraj Agarwal, David P Carbone, Amit Mahipal, Shilpa Gupta, David Fabrizio, Jeffrey S Ross, Gerald Li, David R Gandara, Miles C Andrews, Jonathan W Riess, Ramez N Eskander, Ryon P Graf, Geoffrey R Oxnard, Sarah Sammons, Jeremy Snider, Lilia Bouzit, Cheryl Cho-Phan, Megan Price, Julia C F Quintanilha, Richard Sheng Poe Huang

“…Deidentified data from electronic health records from approximately 280 cancer treatment facilities were captured into a clinico-genomic database. This study used the TMB algorithm from the FDA-approved test supporting solid tumor CDx and composite mortality variable validated against the national death index: real-world overall survival (rwOS). …”
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Phenotypic and genotypic characterization of clinical carbapenem-resistant Acinetobacter species harboring the metallo-beta-lactamases IMP-8 or NDM-1 in China by Qingye Xu, Xinli Mu, Jintao He, Haiyang Liu, Xiaochen Liu, Yanfei Wang, Xiaoting Hua, Yunsong Yu

“…The blaIMP-8-carrying A1014 was the first identified CRAB among all known STPas150 isolates worldwide. Through whole-genome sequencing and the southern blot analysis, we determined that blaIMP-8 was located on a pR4WN-type plasmid and blaNDM-1 was located on four distinct pSU1904NDM-type plasmids. …”
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Minimally invasive determination of pancreatic ductal adenocarcinoma (PDAC) subtype by means of circulating cell‐free RNA by Martin Metzenmacher, Gregor Zaun, Marija Trajkovic‐Arsic, Phyllis Cheung, Timm M. Reissig, Hendrik Schürmann, Nils vonNeuhoff, Grainne O'Kane, Stephanie Ramotar, Anna Dodd, Steven Gallinger, Alexander Muckenhuber, Jennifer J. Knox, Volker Kunzmann, Peter A. Horn, Jörg D. Hoheisel, Jens T. Siveke, Smiths S. Lueong

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TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin by Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly

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Evolution of human genes encoding cell surface receptors involved in the regulation of appetite: an analysis based on the phylostratigraphic age and divergence indexes by E. V. Ignatieva, S. A. Lashin, Z. S. Mustafin, N. A. Kolchanov

“…Genes encoding cell surface receptors make up a significant portion of the human genome (more than a thousand genes) and play an important role in gene networks. …”
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A novel way to use cross-validation to measure connectivity by machine learning allows epilepsy surgery outcome prediction by Karla Ivankovic, Alessandro Principe, Justo Montoya-Gálvez, Linus Manubens-Gil, Riccardo Zucca, Pablo Villoslada, Mara Dierssen, Rodrigo Rocamora

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Transcriptome signature in the blood of neuromyelitis optica spectrum disorder under steroid tapering by Ryohei Yamamura, Makoto Kinoshita, Yoshiaki Yasumizu, Yoshiaki Yasumizu, Yoshiaki Yasumizu, Tomohiro Yata, Keigo Kihara, Daisuke Motooka, Daisuke Motooka, Naoyuki Shiraishi, Yasuko Sugiyama, Shohei Beppu, Hisashi Murata, Naoshi Koizumi, Itsuki Sano, Toru Koda, Tatsusada Okuno, Hideki Mochizuki

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PneumoniaCheck, a novel aerosol collection device, permits capture of airborne Mycobacterium tuberculosis and characterisation of the cough aeromicrobiome in people with tuberculos... by Tinaye L. Chiyaka, Georgina R. Nyawo, Charissa C. Naidoo, Suventha Moodley, Jose C. Clemente, Stephanus T. Malherbe, Robin M. Warren, David N. Ku, Leopoldo N. Segal, Grant Theron

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G3BP1 ribonucleoprotein complexes regulate focal adhesion protein mobility and cell migration by Liana C. Boraas, Mengwei Hu, Pieter Martino, Lauren Thornton, Charles E. Vejnar, Gang Zhen, Longhui Zeng, Dylan M. Parker, Andy L. Cox, Antonio J. Giraldez, Xiaolei Su, Christine Mayr, Siyuan Wang, Stefania Nicoli

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Mendelian randomization analysis of plasma proteins reveals potential novel tumor markers for gastric cancer by Wenhai Fan, Zhenjiang Wu, Shenghao Xu, Zhiheng Liu, Yiming Huang, Pan Wang

“…Abstract This study aimed to elucidate the potential causal relationship between 4,907 plasma proteins and the risk of gastric cancer using a two-sample Mendelian randomization approach. We utilized genome-wide association study (GWAS) data to perform two-sample Mendelian randomization analyses, treating the 4,907 plasma proteins as exposure factors and gastric cancer as the outcome. …”
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