Human genome sequencing at the population scale: a primer on high-throughput DNA sequencing and analysis

RL Goldfeder, DP Wall, MJ Khoury… - American journal of …, 2017 - academic.oup.com
Most human diseases have underlying genetic causes. To better understand the impact of
genes on disease and its implications for medicine and public health, researchers have …

Reproducibility of computational workflows is automated using continuous analysis

BK Beaulieu-Jones, CS Greene - Nature biotechnology, 2017 - nature.com
Replication, validation and extension of experiments are crucial for scientific progress.
Computational experiments are scriptable and should be easy to reproduce. However …

Guiding the global evolution of cytogenetic testing for hematologic malignancies

YMN Akkari, LB Baughn, AM Dubuc… - Blood, The Journal …, 2022 - ashpublications.org
Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …

Tissue-based next generation sequencing: application in a universal healthcare system

SO Hynes, B Pang, JA James, P Maxwell… - British Journal of …, 2017 - nature.com
In the context of solid tumours, the evolution of cancer therapies to more targeted and
nuanced approaches has led to the impetus for personalised medicine. The targets for these …

[HTML][HTML] A survey on data integration for multi-omics sample clustering

M Lovino, V Randazzo, G Ciravegna, P Barbiero… - Neurocomputing, 2022 - Elsevier
Due to the current high availability of omics, data-driven biology has greatly expanded, and
several papers have reviewed state-of-the-art technologies. Nowadays, two main types of …

Ethics and epistemology in big data research

W Lipworth, PH Mason, I Kerridge… - Journal of bioethical …, 2017 - Springer
Biomedical innovation and translation are increasingly emphasizing research using “big
data.” The hope is that big data methods will both speed up research and make its results …

Genome-based mutational analysis by next generation sequencing in patients with malignant pleural and peritoneal mesothelioma

G Ugurluer, K Chang, ME Gamez, AL Arnett… - Anticancer …, 2016 - ar.iiarjournals.org
Background/Aim: Malignant mesothelioma is a rare malignancy with limited therapeutic
options. Exome-based next-generation sequencing (NGS) techniques may direct the future …

Closha: bioinformatics workflow system for the analysis of massive sequencing data

GH Ko, PG Kim, J Yoon, G Han, SJ Park, W Song… - BMC …, 2018 - Springer
Background While next-generation sequencing (NGS) costs have fallen in recent years, the
cost and complexity of computation remain substantial obstacles to the use of NGS in bio …

Construction of a high-density genetic map and its application for leaf shape QTL mapping in poplar

W Xia, Z Xiao, P Cao, Y Zhang, K Du, N Wang - Planta, 2018 - Springer
Main conclusion High-quality and dense genetic maps were constructed, and leaf shape
variation was dissected by QTL mapping in poplar. Species in the genus Populus, also …

[HTML][HTML] The construction of a haplotype reference panel using extremely low coverage whole genome sequences and its application in genome-wide association …

Z Zhang, P Ma, Z Zhang, Z Wang, Q Wang, Y Pan - Genomics, 2022 - Elsevier
Extremely low coverage whole genome sequencing (lcWGS) is an economical technique to
obtain high-density single nucleotide polymorphisms (SNPs). Here, we explored the …