Application of emerging technologies for gut microbiome research by Wit Thun Kwa, Saishreyas Sundarajoo, Kai Yee Toh, Jonathan Lee

“…Recent years have seen a dramatic rise in gut microbiome studies, which has been enabled by the rapidly evolving high-throughput sequencing methods (i.e. 16S rRNA sequencing and shotgun sequencing). …”
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High-Resolution Melting Analysis to Detect Antimicrobial Resistance Determinants in South African Neisseria gonorrhoeae Clinical Isolates and Specimens by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

“…Real-time PCR and high-resolution melting analysis were used to detect porA pseudogene (species-specific marker) and resistance-associated targets. Whole-genome sequencing was used as the gold standard for the presence of point mutations. …”
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Differentially Expressed microRNAs in Peritoneal Dialysis Effluent-Derived Exosomes from the Patients with Ultrafiltration Failure by Weifei Wu, Xu Wu, Zhiqun Cheng, Zhenzhen Yang, Minhui Lu, Jing Cheng

“…In addition, the consistency rate of RT-qPCR and sequencing results was 75%, which indicated the relatively high reliability of the sequencing data. …”
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…A confirmatory diagnosis is facilitated by genetic testing like chromosomal microarray and next generation sequencing. We describe here our cohort of 15 patients: children and adolescents with ID diagnosed by using sequencing technologies and parental segregation studies. …”
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Methylmalonic Acidemia with Novel MUT Gene Mutations by Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh

“…Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. …”
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COEX-Seq: Convert a Variety of Measurements of Gene Expression in RNA-Seq by Sang Cheol Kim, Donghyeon Yu, Seong Beom Cho

“…Next generation sequencing (NGS), a high-throughput DNA sequencing technology, is widely used for molecular biological studies. …”
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Transcriptome Analysis of Cryptolestes ferrugineus under Low-temperature Stress by WU Tian-yi, WU Yi, FANG Zhi-yi, ZHANG Xiao-pei, WANG Fu-ling, XUE Ding-rong

“…Combining PacBio Iso Sequencing and Illumina RNA Sequencing, 10,508 full-length transcripts were obtained, with 9,523 successfully annotated. …”
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Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

“…This study investigated the expression profile of antibiotic resistance-associated genes (penA, ponA, pilQ, mtrR, mtrA, mtrF, gyrA, parC, parE, rpsJ, 16S rRNA, and 23S rRNA) and efflux pump genes (macAB, norM, and mtrCDE), by quantitative real-time PCR, in clinical isolates from KwaZulu-Natal, South Africa. Whole-genome sequencing was used to determine the presence or absence of mutations. …”
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Dynamic Roles of RNA and RNA Epigenetics in HTLV-1 Biology by Emily M. King, Amanda R. Panfil

“…The ability to study RNA epigenetic modifications and splice variants has become more feasible with the recent development of third-generation sequencing technologies, such as Oxford nanopore sequencing. …”
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Genome Survey and SSR Analysis of Camellia nitidissima Chi (Theaceae) by Yu Bai, Lin Ye, Kang Yang, Hui Wang

“…In this study, we conducted a genome survey sequencing analysis and simple sequence repeat (SSR) identification of CNC using the Illumina sequencing platform. …”
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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. …”
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Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy by Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang

“…Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the TRAPPC11 gene. …”
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Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy by Qin Xiang, Lamei Yuan, Yanna Cao, Hongbo Xu, Yunfeiyang Li, Hao Deng

“…Sanger sequencing was used to test the variant in the family members. …”
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Identification and validation of hub gene TNFAIP6 of fibroblast-like synoviocytes in rheumatoid arthritis by LEI Lei, LYU Yuxin, ZHANG Jing

“…Methods‍　‍Four independent synovial tissue microarray transcriptome sequencing datasets and one single cell sequencing dataset were downloaded from the Gene Expression Omnibus (GEO) database, and the hub gene of RA fibroblast-like synovial cells was identified by differential gene analysis, weighted gene co-expression network analysis (WGCNA) and single-cell sequencing data analysis. …”
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A Comparative Study on Phenotypic versus ITS-Based Molecular Identification of Dermatophytes Isolated in Dakar, Senegal by Khadim Diongue, Ludivine Bréchard, Mamadou Alpha Diallo, Mame Cheikh Seck, Mouhamadou Ndiaye, Aida Sadikh Badiane, Stéphane Ranque, Daouda Ndiaye

“…ITS sequences showed, in BLAST search analysis, 99-100% of similarity. …”
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Unique North American isolates of severe metastatic hypervirulent Klebsiella pneumoniae strain infections with hepatic abscesses seen in young patients within Texas. by Junaid M Alam, Eric N Riha, Haris Ahmed, Hong M Thai, Kevin Garnepudi, Ramesh B Kesavan, Gnananandh Jayaraman, Anna Sangster, Dylan Curry, Heidi A Butz, Lori Smith, Maureen Vowles, Kelly F Oakeson, Erin L Young, Siva T Sarva

“…<h4>Methods</h4>Whole genome sequencing was performed using both paired-end Illumina MiSeq and nanopore sequencing to obtain a Completed genome for both isolates.…”
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Comprehensive genome-scale CRISPR knockout screening of CHO cells by Sung Wook Shin, Su Hyun Kim, Aghiles Gasselin, Gyun Min Lee, Jae Seong Lee

“…Additionally, we obtained gRNA amplicon sequencing data from the highly productive recombinant cell populations. …”
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A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hypert... by Hongbing Liu, Jianmin Ran, Chuping Chen, Guangshu Chen, Ping Zhu, Rongshao Tan, Yan Liu

“…In the proband and these three pedigrees, the high-throughput gene screening sequencing and the following Sanger sequencing disclosed a heterozygous mutation in the albumin gene, which located in its exon 7 (c.725G > A), and correspondingly leads to an arginine replacement with a histidine (R242H) in its protein. …”
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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

“…In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. …”
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Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant by Shuai Zhang, Guanyu Fu, Gongping Sun, Yuanxin Tang, Jin Meng, Zhigang Wang, Rongjun Su, Wei Liu, Xiaoxia Li

“…This result is further verified by Sanger sequencing. Conclusion Uncover a rare nonsense variant in MSH2 gene, which contributes to LS of this family. …”
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