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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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report) by Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

“…His features include intellectual disability, primary microcephaly, delayed psychomotor development, speech delay, short stature, dysmorphic facial features, esotropia, kyphoscoliosis, and behavior abnormalities (Figure). Next generation sequencing revealed autosomal recessive TTI2 variant with uncertain significance, denoted as c.21_22insAAGCGCTCTG (p.Glu8Lysfs × 12). …”
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Haplotypes-based genetic analysis: benefits and challenges by D. Sehgal, S. Dreisigacker

“…The increasing availability of Single Nucleotide Polymorphisms (SNPs) discovered by Next Generation Sequencing will enable a range of new genetic analyses in crops, which was not possible before. …”
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Estimation of the Genetic Substitution Rate of Hanwoo and Holstein Cattle Using Whole Genome Sequencing Data by Young-Sup Lee, Donghyun Shin

“…Despite the importance of mutation rate, some difficulties exist in estimating it. Next-generation sequencing (NGS) data yields large numbers of single-nucleotide polymorphisms, which can make it feasible to estimate substitution rates. …”
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Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing by Marisa P. Dolled-Filhart, Michael Lee, Chih-wen Ou-yang, Rajini Rani Haraksingh, Jimmy Cheng-Ho Lin

“…It has become increasingly apparent that one of the major hurdles in the genomic age will be the bioinformatics challenges of next-generation sequencing. We provide an overview of a general framework of bioinformatics analysis. …”
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A Novel Partial Sequence Alignment Tool for Finding Large Deletions by Taner Aruk, Duran Ustek, Olcay Kursun

“…Although there are a number of publically available next generation sequencing mapping and sequence alignment programs, these software packages do not correctly align fragments containing deletions larger than one kb. …”
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Pengkontruksian Bidirected Overlap Graph untuk Perakitan Sekuens DNA by Wisnu Ananta Kusuma, Albert Adrianus

“…Tahapan ini diperlukan untuk merakit atau menyambungkan kembali fragmen-fragmen DNA (reads) yang dihasilkan oleh Next Generation Sequencing menjadi genom yang utuh. Masalah perakitan DNA ini dapat direpresentasikan sebagai masalah Shortest Common Superstring (SCS). …”
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Investigation of Splicing Quantitative Trait Loci in by Wonseok Yoo, Sungkyu Kyung, Seonggyun Han, Sangsoo Kim

“…Here, we report the results of genome-wide sQTLs across 141 strains of Arabidopsis thaliana with publicly available next generation sequencing datasets. As a result, we found 1,694 candidate sQTLs in Arabidopsis thaliana at a false discovery rate of 0.01. …”
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P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma by Sarah Bouri, Philippe Simon, Nicky D’Haene, Xavier Catteau, Jean-Christophe Noël

“…We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. …”
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VV-ECMO adjuvant therapy for Leptospira complicated with H1N1 infection: a case report by YuChou Zhang, MingJing Yin, HanChun Wen

“…Metagenomic next-generation sequencing (mNGS) indicates infection with leptospirosis and influenza A. …”
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IVAG: An Integrative Visualization Application for Various Types of Genomic Data Based on R-Shiny and the Docker Platform by Tae-Rim Lee, Jin Mo Ahn, Gyuhee Kim, Sangsoo Kim

“…Next-generation sequencing (NGS) technology has become a trend in the genomics research area. …”
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Genetic Architecture of Transcription and Chromatin Regulation by Kwoneel Kim, Hyoeun Bang, Kibaick Lee, Jung Kyoon Choi

“…DNA microarray and next-generation sequencing provide data that can be used for the genetic analysis of multiple quantitative traits such as gene expression levels, transcription factor binding profiles, and epigenetic signatures. …”
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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.…”
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Primary renal sarcoma in a female patient: case report by Somang Lee, Binnari Kim

“…A BCOR::CCNB3 fusion was detected by next-generation sequencing–based molecular testing. BCOR::CCNB3 sarcoma presents diagnostic difficulties, highlighting the importance of recognizing its histological features. …”
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Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature by Nayan Patel Sureja, Liza Rajasekhar

“…We report a 22-year-old female, with recurrent generalized urticaria, periodic fever and pain abdomen, inflammatory polyarthritis, cutaneous lesions over the extremities, and persistently elevated inflammatory markers. On next-generation sequencing, a heterozygous missense mutation in exon 4 of the NLRP1 gene (chr17:G.5461839C>T) was detected, which results in the amino acid substitution of glutamine for arginine at codon 726 (c.2177G>A; p.Arg726Gln). …”
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An Anaplastic Lymphoma Kinase-positive Inflammatory Myofibroblastic Tumor with Rapidly Acquired Resistance to First-line Anaplastic Lymphoma Kinase Inhibitor: A Case and Literature... by Shu-Cheng Wu, Hsing-Wu Chen

“…Repeated biopsy and next-generation sequencing (NGS) showed ALK:c.3604G>A; p.(Gly1202Arg), which is a common mechanism of drug resistance in ALK fusion-positive non-small cell lung cancer. …”
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A stratified two-stage tumor molecular profiling algorithm to identify clinically actionable molecular alterations in pancreatic cancer☆ by S. Hussung, D. Akhoundova, C. Pistoni, D. Lenggenhager, A. Töpfer, C. Pauli, B. Pestalozzi, C. Britschgi, M. Zoche, M. Rechsteiner, H. Moch, A. Weber, R. Fritsch

“…Moreover, the magnitude of benefit and the cost-effectiveness of comprehensive next-generation sequencing panels for PC are under debate. Materials and methods: We implemented a stratified two-stage TMP algorithm for advanced PC. …”
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Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion by Namra Ajmal, Stacey M. Gargano, Ujwala Gosavi, Madalina Tuluc

“…The tumor demonstrated a novel THBS1::ALK fusion containing Exons 1–7 of the thrombospondin 1 (THBS1) gene fused to Exon 19 of the anaplastic lymphoma kinase (ALK) gene via next-generation sequencing with the NextSeq sequencer. The fusion of THBS1 to ALK potentially results in increased expression and constitutive activation of the ALK kinase domain. …”
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A Rare Case of Richter Transformation to Both Clonally Unrelated and Clonally Related Diffuse Large B-Cell Lymphoma in the Same Patient by Michelle D. Don, Carlos Casiano, Huan-You Wang, Mikhail Gorbounov, Wei Song, Edward D. Ball

“…Additionally, we retrospectively conducted next-generation sequencing studies of both RT’s and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. …”
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