The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice

KR Kumar, MJ Cowley, RL Davis - Seminars in Thrombosis …, 2024 - thieme-connect.com
Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …

Next-generation sequencing and emerging technologies

KR Kumar, MJ Cowley, RL Davis - Seminars in thrombosis and …, 2024 - thieme-connect.com
Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …

Four generations of sequencing: Is it ready for the clinic yet?

S Srinivasan, J Batra - Journal of Next Generation Sequencing & …, 2014 - eprints.qut.edu.au
Next-generation sequencing techniques have revolutionized over the last decade providing
researchers with low cost, high-throughput alternatives compared to the traditional Sanger …

Genomic analysis for the detection of bleeding and thrombotic disorders

K Gomez - Seminars in Thrombosis and Hemostasis, 2021 - thieme-connect.com
The development of high-throughput sequencing technologies has ushered in a new era of
genomic testing in clinical medicine. This has greatly enhanced our diagnostic repertoire for …

Controversy and debate on clinical genomics sequencing—paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of …

BJ Wilson, FA Miller, F Rousseau - Journal of Clinical Epidemiology, 2017 - Elsevier
Next generation genomic sequencing (NGS) technologies—whole genome and whole
exome sequencing—are now cheap enough to be within the grasp of many health care …

Clinical sequencing: from raw data to diagnosis with lifetime value

SM Caspar, N Dubacher, AM Kopps… - Clinical …, 2018 - Wiley Online Library
High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …

[HTML][HTML] Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

F Ver Donck, K Downes, K Freson - Journal of Thrombosis and …, 2020 - Elsevier
Inherited bleeding and platelet disorders (BPD) are highly heterogeneous and their
diagnosis involves a combination of clinical investigations, laboratory tests, and genetic …

[HTML][HTML] Development of Shiny app tools to simplify and standardize the analysis of hemostasis assay data: communication from the SSC of the ISTH

C Longstaff - Journal of Thrombosis and Haemostasis, 2017 - Elsevier
The number of diagnostic and health‐monitoring apps is increasing exponentially, and they
promise to revolutionize medical care in the coming years. However, apps may also have a …

[HTML][HTML] Next generation sequencing: from research area to clinical practice

C Di Resta, M Ferrari - Ejifcc, 2018 - ncbi.nlm.nih.gov
Translating the power of high-throughput sequencing technologies from research area into
clinical medicine is one of the major goal for several researchers and health-care providers …

[HTML][HTML] Obstacles and opportunities for the future of genomic medicine

BD Solomon - Molecular Genetics & Genomic Medicine, 2014 - ncbi.nlm.nih.gov
The pace of the advancement of genomic sequencing over the last decade–especially
within the last 5 years–has been astounding. What initially required billions of dollars and …