Results 41 to 50 of about 73,831 (171)

Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis [PDF]

, 2023
Norman Shreeve, C. Sproule, Kwong Wai Choy, Zirui Dong, Katarzyna Gajewska‐Knapik, Mark D. Kilby, Fionnuala Mone   +6 more
openalex   +1 more source

Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs

Canine Medicine and Genetics, 2020
Background Although, in general, cancer is considered a multifactorial disease, clustering of particular cancers in pedigrees suggests a genetic predisposition and could explain why some dog breeds appear to have an increased risk of certain cancers.
Anna L. W. Huskey, Katie Goebel, Carlos Lloveras-Fuentes, Isaac McNeely, Nancy D. Merner   +4 more
doaj   +1 more source

Genome variation in colorectal cancer patient with liver metastasis measured by whole-exome sequencing [PDF]

, 2021
Hui Yi, Zhiwei Liao, Junjie Chen, Xinyu Shi, Guoliang Chen, Guanting Wu, Diyuan Zhou, Guoqiang Zhou, Jinyu Huang, Lian Lian, Zhengyuan Yu, Songbing He   +11 more
openalex   +1 more source

Evaluation of HLA typing content of next-generation sequencing datasets from family trios and individuals of arab ethnicity

Frontiers in Genetics
Introduction: HLA typing is a critical tool in both clinical and research applications at the individual and population levels. Benchmarking studies have indicated HLA-HD as the preferred tool for accurate and comprehensive HLA allele calling. The advent
Mohammed Dashti, Md Zubbair Malik, Rasheeba Nizam, Sindhu Jacob, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +5 more
doaj   +1 more source

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

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

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

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

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing [PDF]

, 2021
Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Sigrid M. A. Swagemakers, Peter J. van der Spek   +10 more
openalex   +1 more source

BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU [PDF]

PeerJ, 2014
This paper reports an integrated solution, called BALSA, for the secondary analysis of next generation sequencing data; it exploits the computational power of GPU and an intricate memory management to give a fast and accurate analysis.
Ruibang Luo, Yiu-Lun Wong, Wai-Chun Law, Lap-Kei Lee, Jeanno Cheung, Chi-Man Liu, Tak-Wah Lam   +6 more
doaj   +2 more sources