Results 71 to 80 of about 6,146,275 (314)

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants [PDF]

Scientific Reports, 2017
AbstractMitochondrial topoisomerase I (TOP1MT) is a type IB topoisomerase encoded in the nucleus of vertebrate cells. In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually ...
Hongliang Zhang, Yeonee Seol, Keli Agama, Keir C. Neuman, Yves Pommier   +4 more
openaire   +3 more sources

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

Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis

Advances and Applications in Bioinformatics and Chemistry, 2017
Next-generation sequencing technology has provided resources to easily explore and identify candidate single-nucleotide polymorphisms (SNPs) and variants. However, there remains a challenge in identifying and inferring the causal SNPs from sequence data.
Suravajhala, Prashanth, BENSO, ALFREDO
openaire   +6 more sources

SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms [PDF]

Nucleic Acids Research, 2007
Inherited genetic variation plays a critical but largely uncharacterized role in human differentiation. The completion of the International HapMap Project makes it possible to identify loci that may cause human differentiation. We have devised an approach to find such ethnically variant single-nucleotide polymorphisms (ESNPs) from the genotype profile ...
Jungsun Park, Sohyun Hwang, Yong Seok Lee, Sang-Cheol Kim, Doheon Lee   +4 more
openaire   +3 more sources

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

Evaluating the impact of single nucleotide variants on transcription factor binding

Nucleic Acids Research, 2016
Diseases and phenotypes caused by disrupted transcription factor (TF) binding are being identified, but progress is hampered by our limited capacity to predict such functional alterations. Improving predictions may be dependent on expanding the set of bona fide TF binding alterations.
Shi, Wenqiang, Fornes, Oriol, Mathelier, Anthony, Wasserman, Wyeth W.   +3 more
openaire   +2 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