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Advancing personalized medicine through the application of whole exome sequencing and big data analytics
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 …
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
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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
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 …
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 …
DNA methylation is associated with transcriptional repression, genomic imprinting, stem cell
differentiation, embryonic development, and inflammation. Aberrant DNA methylation can …
differentiation, embryonic development, and inflammation. Aberrant DNA methylation can …
Evaluation of microRNA alignment techniques
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 …
considerable challenges due to their short length (∼ 21 nucleotides [nt]) as well as the large …