Advancing personalized medicine through the application of whole exome sequencing and big data analytics

P Suwinski, CK Ong, MHT Ling, YM Poh… - Frontiers in …, 2019 - frontiersin.org
There is a growing attention toward personalized medicine. This is led by a fundamental
shift from the 'one size fits all'paradigm for treatment of patients with conditions or …

Next generation sequencing and bioinformatics analysis of family genetic inheritance

AM Kanzi, JE San, B Chimukangara, E Wilkinson… - Frontiers in …, 2020 - frontiersin.org
Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

Omics-based strategies in precision medicine: toward a paradigm shift in inborn errors of metabolism investigations

A Tebani, C Afonso, S Marret, S Bekri - International journal of molecular …, 2016 - mdpi.com
The rise of technologies that simultaneously measure thousands of data points represents
the heart of systems biology. These technologies have had a huge impact on the discovery …

Regulatory variants: from detection to predicting impact

E Rojano, P Seoane, JAG Ranea… - Briefings in …, 2019 - academic.oup.com
Variants within non-coding genomic regions can greatly affect disease. In recent years,
increasing focus has been given to these variants, and how they can alter regulatory …

From next-generation resequencing reads to a high-quality variant data set

SP Pfeifer - Heredity, 2017 - nature.com
Sequencing has revolutionized biology by permitting the analysis of genomic variation at an
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …

[HTML][HTML] Evaluation and assessment of read-map** by multiple next-generation sequencing aligners based on genome-wide characteristics

S Thankaswamy-Kosalai, P Sen, I Nookaew - Genomics, 2017 - Elsevier
Massive data produced due to the advent of next-generation sequencing (NGS) technology
is widely used for biological researches and medical diagnosis. The crucial step in NGS …

Next-generation sequencing informatics: challenges and strategies for implementation in a clinical environment

S Roy, WA LaFramboise… - … of pathology & …, 2016 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory
medicine, with a deep and direct impact on patient care. Although it empowers clinical …

Comparison of read map** and variant calling tools for the analysis of plant NGS data

HM Schilbert, A Rempel, B Pucker - Plants, 2020 - mdpi.com
High-throughput sequencing technologies have rapidly developed during the past years
and have become an essential tool in plant sciences. However, the analysis of genomic data …

Analysis and performance assessment of the whole genome bisulfite sequencing data workflow: currently available tools and a practical guide to advance DNA …

T Gong, H Borgard, Z Zhang, S Chen, Z Gao… - Small …, 2022 - Wiley Online Library
DNA methylation is associated with transcriptional repression, genomic imprinting, stem cell
differentiation, embryonic development, and inflammation. Aberrant DNA methylation can …

Evaluation of microRNA alignment techniques

M Ziemann, A Kaspi, A El-Osta - Rna, 2016 - rnajournal.cshlp.org
Genomic alignment of small RNA (smRNA) sequences such as microRNAs poses
considerable challenges due to their short length (∼ 21 nucleotides [nt]) as well as the large …