نتایج جستجو برای: throughput sequencing

تعداد نتایج: 193236  

Journal: :Annals of child neurology 2021

Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic Encephalopathy

Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput se­quencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...

Background: Somatic mutations in the hotspot region of the DNA-methyltransferase 3A (DNMT3A) gene were recurrently identified in acute myeloid leukemia (AML). It is believed that DNMT3A mutations confer an adverse prognosis for AML patients. These lines of evidence support the need for a rapid and cost-efficient method for the detection of these mutations. The present study aimed to establish h...

2018
José M. Bastida María L. Lozano Rocío Benito Kamila Janusz Verónica Palma-Barqueros Mónica Del Rey Jesús M. Hernández-Sánchez Susana Riesco Nuria Bermejo Hermenegildo González-García Agustín Rodriguez-Alén Carlos Aguilar Teresa Sevivas María F. López-Fernández Anna E. Marneth Bert A. van der Reijden Neil V. Morgan Steve P. Watson Vicente Vicente Jesús M. Hernández-Rivas José Rivera José R. González-Porras

Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed via Sanger sequencing of a limited number of candidate genes. High-throughput sequencing is revolutionizin...

Journal: :Proceedings of the National Academy of Sciences 2018

Journal: :Applied and Environmental Microbiology 2011

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید