Results 41 to 50 of about 75,829 (126)

Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing

The Scientific World Journal, 2013
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.
Marisa P. Dolled-Filhart, Michael Lee, Chih-wen Ou-yang, Rajini Rani Haraksingh, Jimmy Cheng-Ho Lin   +4 more
doaj   +1 more source

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

Molecular Genetics & Genomic Medicine, 2023
Background As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases.
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch   +10 more
doaj   +1 more source

Sensitivity to sequencing depth in single-cell cancer genomics

Genome Medicine, 2018
Background Querying cancer genomes at single-cell resolution is expected to provide a powerful framework to understand in detail the dynamics of cancer evolution.
João M. Alves, David Posada
doaj   +1 more source

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

Nature Communications, 2018
Clinical oncology is rapidly adopting next-generation sequencing technology for nucleotide variant and indel detection. Here the authors present a three-platform approach (whole-genome, whole-exome, and whole-transcriptome) in pediatric patients for the ...
Michael Rusch, Joy Nakitandwe, Sheila Shurtleff, Scott Newman, Zhaojie Zhang, Michael N. Edmonson, Matthew Parker, Yuannian Jiao, Xiaotu Ma, Yanling Liu, Jiali Gu, Michael F. Walsh, Jared Becksfort, Andrew Thrasher, Yongjin Li, James McMurry, Erin Hedlund, Aman Patel, John Easton, Donald Yergeau, Bhavin Vadodaria, Ruth G. Tatevossian, Susana Raimondi, Dale Hedges, Xiang Chen, Kohei Hagiwara, Rose McGee, Giles W. Robinson, Jeffery M. Klco, Tanja A. Gruber, David W. Ellison, James R Downing, Jinghui Zhang   +32 more
doaj   +1 more source

CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. [PDF]

PLoS ONE, 2013
Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to ...
Rocco Piazza, Vera Magistroni, Alessandra Pirola, Sara Redaelli, Roberta Spinelli, Serena Redaelli, Marta Galbiati, Simona Valletta, Giovanni Giudici, Giovanni Cazzaniga, Carlo Gambacorti-Passerini   +10 more
doaj   +1 more source

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

BMC Medical Genomics, 2020
Background Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of ...
Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng   +4 more
doaj   +1 more source

Comparative analysis of whole exome sequencing kits for the canine genome.

PLoS ONE
ObjectivesAs the public's interest in companion dogs grows, health issues in these animals are also emerging, necessitating the optimization of whole exome sequencing (WES) as a valuable method for disease prediction. While WES targeting the human genome
Jinhee Jang, Yong-Jik Lee, Soohyun Ko, A M Abd El-Aty, Ibrahim Gecili, Ji Hoon Jeong, ChangHyuk Kwon, Tae Woo Jung   +7 more
doaj   +1 more source

Interpreting whole genome and exome sequencing data of individual gastric cancer samples

BMC Genomics, 2017
Background Gastric cancer is the fourth most common cancer and the second leading cause of cancer death worldwide. In order to understand the genetic background, we sequenced the whole exome and the whole genome of one microsatellite stable as well as ...
Daniela Esser, Niklas Holze, Jochen Haag, Stefan Schreiber, Sandra Krüger, Viktoria Warneke, Philip Rosenstiel, Christoph Röcken   +7 more
doaj   +1 more source

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

Journal of Allergy and Clinical Immunology: Global
Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function.
Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB   +12 more
doaj   +1 more source

Clinical applications of whole-genome and whole-exome sequencing in medical practice: Current status, challenges, and future directions – A narrative review

Tungs’ Medical Journal
Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are transformative next-generation sequencing (NGS) technologies that have rapidly revolutionized clinical diagnostics, particularly in cases of rare genetic disorders and oncology.
Po-Hung Chen, Yen Chin, Ching-Yu Chu
doaj   +1 more source