Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

“…We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods. …”
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Genomic exploration of pediatric neurological disorders: a case series by Naresh Tayade, Gautham Manoj, Akshay Kewat, Anjali Krishna A, Rajiv Devulapalli, Somesh Kumar, Sunil Kumar Polipalli, Bipin G. Nair, Obul Reddy Bandapalli, Prashanth Suravajhala

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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

“…Findings 54% (7/13) bags and 46% (6/14) filters were Ultra-positive. Sequencing read counts and microbial diversity did not differ across bags, filters, and sputum. …”
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Identification of nine mammal monosaccharides by solid-state nanopores by Yunze Sun, Zhuang Mi, Xiaoyu Chen, Jian-Jun Li, Jun Lu, Xinyan Shan, Xinghua Lu, Yuguang Du

“…In the past few years, the single molecule sensing technique based on nanopores has achieved great success in sequencing of DNA. Inspired by this, it is potential to sequence glycans in the similar manner. …”
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Genetic Characterization of Escherichia coli O157 Isolated From Human Stool Specimens in Wassit Province of Iraq by Sabah M. Jwied, Mohammed Sh. Jebur

“…While 9 cases were positive for stx genes and have rfb gene. DNA sequences that depend on the sequence of the vtx2 gene have shown a highly homologous sequencing identity with NCBI-Blast Escherichia coli strain( O157:H7) isolates from humans and animals. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

“…Parental carriers displayed no symptoms, underscoring the importance of whole exome sequencing for accurate diagnosis and informed family planning decisions. …”
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Saturated Transposon Analysis in Yeast as a one-step method to quantify the fitness effects of gene disruptions on a genome-wide scale. by Enzo Kingma, Floor Dolsma, Leila Iñigo de la Cruz, Liedewij Laan

“…Transposon insertion site sequencing (TIS) is a powerful tool that has significantly advanced our knowledge of functional genomics. …”
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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1. by Juan Sebastian Arias-Flórez, Sandra Ximena Ramirez, Bibiana Bayona-Gomez, Lina Castro-Castillo, Valeria Correa-Martinez, Yasmín Sanchez-Gomez, William Usaquén-Martínez, Lilian Andrea Casas-Vargas, Carlos Eduardo Olmos Olmos, Nora Contreras Bravo, Camilo Andres Velandia-Piedrahita, Adrien Morel, Rodrigo Cabrera-Perez, Natalia Santiago-Tovar, Cristian Camilo Gaviria-Sabogal, Ingrid Tatyana Bernal, Dora Janeth Fonseca-Mendoza, Carlos M Restrepo

“…For Families 2 and 3, the c.1417G>A variant was confirmed by Sanger sequencing. This variant had been previously reported to the patient prior to the beginning of this study. …”
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Comprehensive Analysis of Breast Cancer Cell Lines: Genome-wide Insights from ChIP-seq Analysis by Tanishq Sahu, Ruchi Yadav

“…Context: Chromatin immunoprecipitation followed by sequencing (ChIP-seq) is the central system in epigenomic exploration. …”
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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss by Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang

“…Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. …”
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome by Hao Zheng, Jun Xu, Yu Wang, Yun Lin, Qingqiang Hu, Xing Li, Jiusheng Chu, Changling Sun, Yongchuan Chai, Xiuhong Pang

“…Whole genome sequencing subsequently located the 5′ and 3′ breakpoints to 19268 bp upstream to the ATG initiation codon and 3180 bp downstream to exon 5. …”
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A case of familial systemic sclerosis by Shreeja Jha, Mohammed Fahad Khan, Aditi Ravindra

“…Given the strong family history, full exome sequencing carried out using the next-generation sequencing method showed an interferon regulatory factor 5 (IRF5) IRF5 rs2004640 GT substitution. …”
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SFannotation: A Simple and Fast Protein Function Annotation System by Dong Su Yu, Byung Kwon Kim

“…Owing to the generation of vast amounts of sequencing data by using cost-effective, high-throughput sequencing technologies with improved computational approaches, many putative proteins have been discovered after assembly and structural annotation. …”
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mSphere of Influence: How the single cell contributes to the collective by Gina R. Lewin

“…In this mSphere of Influence article, she reflects on how two papers describing bacterial single-cell RNA-seq—“Prokaryotic single-cell RNA sequencing by in situ combinatorial indexing” by S. …”
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A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family by Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang

“…Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. …”
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Mutation in the COL2A1 gene is associated with acetabular dysplasia by Miaomiao Xin, Xin Guan, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu

“…Clinical whole-exome sequencing (WES) using next-generation sequencing (NGS) was conducted to identify potential mutation sites, which were then validated through Sanger sequencing. …”
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Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant by Zhen Li, Zhen Li, Changming Han, Hongwei Zhao

“…Peripheral blood samples were collected for DNA extraction and subsequent whole-exon gene sequencing. For previously identified patients, high-throughput sequencing was utilized, whereas Sanger sequencing was employed for the parents to determine the site of the gene mutation and examine the connection between genotype and phenotype.ResultsThe male child showed delays in intellectual and language development before the disease began. …”
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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…BackgroundGenomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes. …”
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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

“…We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing. …”
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PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family by Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin

“…Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2. …”
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