Results 21 to 30 of about 15,621,385 (284)

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

Annals of Child Neurology, 2021
Precision Medicine Based on High-Throughput Nucleotide Sequencing for a Patient with SCN2A-Related Developmental Epileptic ...
Se Eun Park, Dajeong Lee, Joo Young Song, Jeehun Lee, Jiwon Lee   +4 more
openaire   +1 more source

Polymorphism discovery and allele frequency estimation using high-throughput DNA sequencing of target-enriched pooled DNA samples. [PDF]

, 2012
peer-reviewedBackground: The central role of the somatotrophic axis in animal post-natal growth, development and fertility is well established. Therefore, the identification of genetic variants affecting quantitative traits within this axis is an ...
Magee, David A, Mullen Michael P, Creevey Christopher J, Park, Stephen D, Killeen Aideen P, Donagh P Berry, Killeen, Aideen P, Park Stephen D, Howard, Dawn J, McGettigan, Paul A., Christopher J Creevey, Creevey, Christopher J.; id_orcid, Matt C Lucy, Michael P Mullen, Waters, Sinead M., Howard Dawn J, David A Magee, Howard, Dawn J., Lucy Matt C, Mullen, Michael P, Berry Donagh P, Berry, Donagh P., McCabe, Matt S., Park, Stephen D., Magee, David A., McCabe Matt S, Dawn J Howard, Creevey, Christopher J., Matt S McCabe, Lucy, Matt C., Waters, Sinead M, McCabe, Matt S, Killeen, Aideen P., Lucy, Matt C, Magee David A, McGettigan Paul A, Paul A McGettigan, Waters Sinead M, MacHugh, David E, MacHugh David E, David E MacHugh, Aideen P Killeen, MacHugh, David E., Park, Stephen D. E., McGettigan, Paul A, McGettigan, Paul, Mullen, Michael P., McCabe, Matthew, Creevey, Christopher J, Berry, Donagh P, Sinead M Waters, Stephen D Park, Berry, Donagh   +52 more
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Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China [PDF]

Clinical and Experimental Otorhinolaryngology, 2015
ObjectivesInfants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation ...
Shou-Xia Li, Ding-Li Chen, Su-Bin Zhao, Li-Li Guo, Hai-Qin Feng, Xiao-Fang Zhang, Li-Li Ping, Zhi-Ming Yang, Cai-Xia Sun, Gen-Dong Yao   +9 more
doaj   +1 more source

More affordable and effective noninvasive single nucleotide polymorphism genotyping using high‐throughput amplicon sequencing [PDF]

Molecular Ecology Resources, 2020
Abstract Noninvasive genotyping methods have become key elements of wildlife research over the last two decades, but their widespread adoption is limited by high costs, low success rates and high error rates. The information lost when genotyping success is low may lead to decreased precision in animal population ...
Charlotte E. Eriksson, Joel Ruprecht, Taal Levi   +2 more
openaire   +2 more sources

Species identification and profiling of complex microbial communities using shotgun Illumina sequencing of 16S rRNA amplicon sequences. [PDF]

, 2013
The high throughput and cost-effectiveness afforded by short-read sequencing technologies, in principle, enable researchers to perform 16S rRNA profiling of complex microbial communities at unprecedented depth and resolution. Existing Illumina sequencing
Niranjan Nagarajan, Eliza Xin Pei Ho, Andreas Wilm (7951), Hibberd, Martin Lloyd, Louie Low (400408), Nagarajan, Niranjan, Eliza Xin Pei Ho (400407), Ong, Swee Hoe, Christophe Lay (400406), Martin Lloyd Hibberd (259920), Low, Louie, Kukkillaya, Vinutha Uppoor, Andreas Wilm, Martin Lloyd Hibberd, Lay, Christophe, Niranjan Nagarajan (131213), Wilm, Andreas, Ho, Eliza Xin Pei, Vinutha Uppoor Kukkillaya (400405), Swee Hoe Ong, Louie Low, Swee Hoe Ong (400404), Vinutha Uppoor Kukkillaya, Christophe Lay   +23 more
core   +1 more source

Bacteriome analysis of Aggregatibacter actinomycetemcomitans-JP2 genotype-associated Grade C periodontitis in Moroccan adolescents

Frontiers in Oral Health, 2023
BackgroundGrade C (previously aggressive) periodontitis (GCP) in adolescents is prevalent in certain parts of Africa where it is associated with JP2 genotype, a highly virulent strain of Aggregatibacter actinomycetemcomitans. The aim of this study was to
Vijaya Lakshmi Pavani Molli, Jamila Kissa, Divyashri Baraniya, Amina Gharibi, Tsute Chen, Nezar N. Al-Hebshi, Jasim M. Albandar   +6 more
doaj   +1 more source

Evaluation of the diagnostic effectiveness of next generation sequencing in sepsis etiology: a systematic review and meta-analysis

Journal of Infection in Developing Countries, 2023
Introduction: Systematic evaluation of the diagnostic value of next generation sequencing (NGS) in sepsis etiology. Methodology: We conducted a systematic search on four databases (Web of Science, Cochrane, PubMed, and Embase) and compiled diagnostic ...
Dong Li, Yinghao Yang, Ying Xie, Jianrong Wang, Wensheng Xu, Junxue Wang, Xiaofeng Hang   +6 more
doaj   +1 more source

Rapid Exonuclease-Based De Novo Sequencing Strategy for Long Oligonucleotides via Liquid-Phase Ion Trap Coupled With Mass Spectrometry. [PDF]

Adv Sci (Weinh)
A liquid‐phase ion trap (LPIT) coupled with ESI‐MS enables rapid, high‐fidelity de novo sequencing of long oligonucleotides in ∼30 min. By applying an electric field to dissociate metal adducts in solution, LPIT delivers clean spectra, superior mass accuracy, and full sequence coverage, surpassing MALDI‐TOF and LC‐MS.
Lu S, Hong J, Fu X, Wang D, Gao Y, Xu W.
europepmc   +2 more sources

Single-cell DNA methylation profiling: Technologies, computation, and applications in precision oncology. [PDF]

Mol Oncol
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Kim IS.
europepmc   +2 more sources

From cheek swabs to consensus sequences : an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes [PDF]

, 2014
Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA
Matisoo-Smith, Elizabeth A, Soria Hernanz, David F, Schurr, Theodore G., Stanton, Jo-Ann, Martínez-Cruz, Begoña, White, W. T., GaneshPrasad, Arun Kumar, Lacerda, Daniela R., Matisoo Smith, Elizabeth, White, W. Timothy J., Vilar, Miguel G., Platt, Daniel E., Parida, Laxmi, Hernanz, Soria, Martínez Cruz, Begoña, Kaplan, Matthew E., Clarke, Andrew, Schurr, Theodore G, Matisoo-Smith, Lisa, Matisoo-Smith, Elizabeth, Mitchell, R. John, Matthew E Kaplan, Vieira, Pedro Paulo, Jo-Ann L Stanton, Matisoo-Smith, Elizabeth A., Dulik, Matthew C., Zalloua, Pierre A., Kaplan, Matthew, Tyler-Smith, Chris, Kaplan, M., W Timothy J White, Santhakumari, Arun Varatharajan, Haak, Wolfgang, Quintana-Murci, Lluis, Stefan Prost, null null, Comas, David, Ziegle, Janet S., Swamikrishnan, Pandikumar, Kaplan, Matthew E, Wells, R. Spencer, HASH(0x55a67fb2a340), White, W Timothy J, Cooper, Alan, Clarke, Andrew C, Der Sarkissian, Clio S.I., The, Genographic Consortium, Stanton, J., Bertranpetit, Jaume, 1952-, White, W Timothy J., Stanton, Jo-Ann L., Stanton, Jo Ann L., Pitchappan, Ramasamy, Adhikarla, Syama, Santos, Fabrício R., Comas, David, 1969-, Haber, Marc; id_orcid, Soodyall, Himla, Royyuru, Ajay K., Prost, Stefan, Adler, Christina J., Renfrew, Colin, Jin, Li, Clark, Andrew, Elizabeth A Matisoo-Smith, Andrew C Clarke, Matisoo-Smith, E., Li, Shilin, The Genographic Consortium, Balanovsky, Oleg, Balanovska, Elena, Clarke, Andrew C., Prost, S., Merchant, Nirav C., Andrew C Clarke, Owings, Amanda C., Stanton, Jo-Ann L, White, W., Bertranpetit, Jaume, Gaieski, Jill B., Genographic Consortium, Haber, Marc, 1980-, Genographic Consortium,, Clarke, A.   +83 more
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