Challenges and considerations of genetic testing in von Willebrand disease by Omid Seidizadeh, Luciano Baronciani, Flora Peyvandi

“…With the introduction of next-generation sequencing, genetic analysis of the VWF has become more practical than it was in the past, when Sanger sequencing was used. …”
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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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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

“…While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. …”
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Sediment microbiomes associated with critical habitat of the Juvenile American Horseshoe Crab; Limulus polyphemus by J. Petersen, C.P. Colon, J.L. Joyner

“…This study is the first to use next generation sequencing to characterize Plumb Beach sediment microbes and the first attempt to examine the gut microbiome of juvenile horseshoe crabs. …”
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Assembly-free reads accurate identification (AFRAID) approach outperforms other methods of DNA barcoding in the walnut family (Juglandaceae) by Yanlei Liu, Kai Chen, Lihu Wang, Xinqiang Yu, Chao Xu, Zhili Suo, Shiliang Zhou, Shuo Shi, Wenpan Dong

“…Our method, which uses next generation sequencing to generate partial chloroplast genomes, reveals that DNA barcode regions are not necessarily fixed, accelerating the process of species identification.…”
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Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review by Yaqin Wang, Jiasi Zhang, Dimin Nie, Ai Zhang, Qun Hu, Aiguo Liu

“…Conclusions Next-generation sequencing has demonstrated significant value in identifying genetic fusions in pediatric PACC. …”
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Lactococcus lactis D4 Restores Gut Microbiota Balance in Azoxymethane and Dextran Sulfate Sodium-induced Colorectal Cancer Rat Model by Rini Suswita, Muhammad Iqbal Rivai, Muhammad Iqbal, Irwan Irwan, Avit Suchitra

“…KEYWORDS: colorectal cancer, gut microbiota, next generation sequencing, Lactococcus lactis D4…”
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Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China by Chongjun Wu, Chongjun Wu, Zhongjin Xu, Zhongjin Xu, Qian Wan, Qian Wan, Feng Chen, Feng Chen, Yao Ye, Yao Ye, Hong Wang, Hong Wang

“…This is an exploration to establish a genetic screening strategy for children with HS, and more detailed genetic screening strategies need to be further studied and explored. Next-generation sequencing remains the main method for the diagnosis and differential diagnosis of HS.…”
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A Case Report of Chlamydia psittaci Infective Endocarditis Complicated With Pneumonia by Dongmei Zhao, Li Zhang, Qiulin Sun, Jun Cheng

“…A rare case of infective endocarditis complicated by pneumonia caused by Chlamydia psittaci was reported, which was diagnosed using metagenomic next-generation sequencing (mNGS). The patient recovered after receiving appropriate anti-infective treatment. …”
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T-PLL Presenting with an Indolent Course by Arsa Thammahong, Narittee Sukswai, Chantana Polprasert

“…T-cell receptor clonality assessment by next-generation sequencing revealed a dominant clone in the ß-chain constant region. …”
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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication by Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

“…Abstract We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. …”
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Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases by Ho-Ming Luk

“…With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. …”
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Preeclampsia, Natural History, Genes, and miRNAs Associated with the Syndrome by Laura Parada-Niño, Luisa Fernanda Castillo-León, Adrien Morel

“…The causes of the pathology are unclear; nevertheless, numerous approaches, including next-generation sequencing, association, and case control and miRNA studies, have shed light on the genetic/molecular basis of PE. …”
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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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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

“…Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.…”
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Diagnosis of a Rare Rickettsia felis Infection Complicated with Unusual Pericardial Effusion and Cardiac Tamponade Using an mNGS Test by Tien-Lung Po, Chien-Hsien Huang, Chia-Hsun Lin, Huei-Fong Hung

“…A diagnosis of chronic fibrosing pericarditis was established based on pericardium tissue obtained through pericardiotomy, and a conclusive metagenomic next-generation sequencing test confirmed the presence of Rickettsia felis infection. …”
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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants by Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

“…Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.…”
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Type 2 Inflammatory Responses in Autoimmune Demyelination of the Central Nervous System: Recent Advances by Massimo Costanza

“…In neuromyelitis optica, an autoimmune demyelinating disorder of the spinal cord and optic nerve, eosinophils extensively infiltrate lesions in the central nervous system (CNS) and promote tissue pathology in experimental models of this disease. Next-generation sequencing of CD4+ T cells isolated from a specific subtype of multiple sclerosis plaque has uncovered an unexpectedly Th2 profile of these cells. …”
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RNA Degradation in Staphylococcus aureus: Diversity of Ribonucleases and Their Impact by Rémy A. Bonnin, Philippe Bouloc

“…The diversity and potential roles of each RNase and of Hfq and RppH are discussed in the context of recent studies, some of which are based on next-generation sequencing technology.…”
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Revolutionizing colorectal cancer detection: A breakthrough in microbiome data analysis. by Mwenge Mulenga, Arutchelvan Rajamanikam, Suresh Kumar, Saharuddin Bin Muhammad, Subha Bhassu, Chandramathi Samudid, Aznul Qalid Md Sabri, Manjeevan Seera, Christopher Ifeanyi Eke

“…The emergence of Next Generation Sequencing (NGS) technology has catalyzed a paradigm shift in clinical diagnostics and personalized medicine, enabling unprecedented access to high-throughput microbiome data. …”
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