Results 51 to 60 of about 5,783,756 (283)

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe, Lohrer, H.D., Tangen, U.   +3 more
core   +1 more source

The Single-Nucleotide Polymorphism (SNP) Validity to Detect Omicron Variants

Advances in Virology, 2023
Introduction. Mutation of SARS-CoV-2 has generated several variants of concern (VOC) which spread promptly worldwide. These emerging variants affected global strategies to overcome COVID-19. Variants of SARS-CoV-2 are determined by the whole genome sequencing (WGS) assay, which is time-consuming, with limited availability (only in several laboratories).
Lia Gardenia Partakusuma, Luhung Budiailmiawan, null Budiman, Ida Parwati, null Aryati, Basti Andriyoko, Louisa Markus, Corine Niswara, Cut Nur Cinthia Alamanda   +8 more
openaire   +3 more sources

Single nucleotide variant filtering pipeline.

, 2015
Numbers in parentheses refer to filtering steps described in the Methods. IA = intracranial aneurysmSingle nucleotide variant filtering pipeline.
Laura Sauerbeck (78528), Kurt Hetrick (710956), Yunlong Liu (46477), Elizabeth Pugh (710955), Hai Lin (163369), Pieter van der Vlies (710958), Dongbing Lai (710954), Patrick Deelen (187548), Tatiana Foroud (28853), Joseph Broderick (78529), Rachel Kleinloog (710957), Janice L. Farlow (710953), Gabriel J. E. Rinkel (517413), Kimberly Doheny (710961), Daniel L. Koller (215373), Bon H. Verweij (710960), Luca Regli (112774), Ynte M. Ruigrok (517412), Hua Ling (235402), Morris A. Swertz (710959)   +19 more
core   +1 more source

Efficient Screening of Long Oligonucleotides Against Hundred Thousands of SARS-CoV-2 Genome Sequences

Frontiers in Virology, 2022
An unprecedented use of high-throughput sequencing for routine monitoring of SARS-CoV-2 viruses in patient samples has created a dataset of over 6 million SARS-CoV-2 genomes.
Manfred Weidmann, Manfred Weidmann, Elena Graf, Daniel Lichterfeld, Ahmed Abd El Wahed, Michaël Bekaert   +5 more
doaj   +1 more source

A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.

, 2007
Interleukin-6 (IL-6) is a key inflammatory cytokine, signalling to most tissues by binding to a soluble IL-6 receptor (sIL-6r), making a complex with gp130.
A Murray, Henley, W, Bandinelli, S, S Rafiq, Rafiq, S, Weedon, MN, Guralnik, JM, Hurst, A, A-M Corsi, Ferrucci, L, K Stevens, S Bandinelli, M N Weedon, Corsi, A-M, L Ferrucci, Murray, A, D Melzer, W Henley, T M Frayling, J M Guralnik, A Hurst, Stevens, K, Melzer, D, Frayling, TM   +23 more
core   +1 more source

A single-nucleotide-polymorphism real-time PCR assay for genotyping of mycobacterium tuberculosis complex in peri-urban Kampala [PDF]

, 2015
Accurate and high-throughput genotyping of Mycobacterium tuberculosis complex (MTBC) may be important for understanding the epidemiology and pathogenesis of tuberculosis (TB).
Eddie M. Wampande, Kathleen Eisenach, Mary Nsereko, Stavroula K. Hatzios, Wampande, Eddie M., Hatzios, Stavroula K., Mayanja, Harriet K., Mupere, Ezekiel, Gagneux, Sebastien, Eisenach, Kathleen, Joloba, Moses L., Moses L. Joloba, Achan, Beatrice, Ezekiel Mupere, Nsereko, Mary, Sebastien Gagneux, Harriet K. Mayanja, null null, Boom, W Henry, Boom, W. Henry, W Henry Boom, Tuberculosis Research Unit,, Beatrice Achan   +22 more
core   +2 more sources

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

Frontiers in Genetics, 2023
Background: MicroRNAs (miRNAs) are important regulators in a variety of biological processes, and their dysregulation is associated with multiple human diseases. Single nucleotide variants (SNVs) in genes involved in the processing of microRNAs may alter miRNA regulation and could present high allele heterogeneity in populations from different ethnic ...
Jesús Juárez-Luis, Moisés Canseco-Ocaña, Miguel Angel Cid-Soto, Xochitl H. Castro-Martínez, Angélica Martínez-Hernández, Lorena Orozco, Araceli Hernández-Zavala, Emilio J. Córdova   +7 more
openaire   +3 more sources

Loqusdb: added value of an observations database of local genomic variation

BMC Bioinformatics, 2020
Background Exome and genome sequencing is becoming the method of choice for rare disease diagnostics. One of the key challenges remaining is distinguishing the disease causing variants from the benign background variation.
Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim   +7 more
doaj   +1 more source

Implications of the Novel Mutations in the SARS-CoV-2 Genome for Transmission, Disease Severity, and the Vaccine Development

Frontiers in Medicine, 2021
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative virus of the coronavirus disease 2019 (COVID-19), has been identified in China in late December 2019.
Hikmet Akkiz
doaj   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source