| 31. |
- Boskovic, Andrea, et al.
(författare)
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Acoustic trapping in the undergraduate laboratory
- 2024
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Ingår i: American Journal of Physics. - : American Association of Physics Teachers (AAPT). - 0002-9505 .- 1943-2909. ; 92:1, s. 59-64
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Tidskriftsartikel (refereegranskat)abstract
- Acoustic trapping is used in modern biophysics laboratories to study cell adhesion or aggregation, to sort particles, or to build model tissues. Here, we create an acoustic trapping setup in liquid for an undergraduate instructional laboratory that is low-cost, easy to build, and produces results in a 1-hour laboratory period. In this setup, we use a glass slide, cover slip, and double-sided tape to make the sample chamber. A piezo-electric transducer connected to a function generator serves as the acoustic source. We use this setup to measure the node spacing (millimeters) and the acoustic trap force (picoNewtons). We anticipate that the simplicity of the experimental setup, the tractability of the theoretical equations, and the richness of the research topics on the subject will lead to an undergraduate laboratory with many interesting student projects.
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| 32. |
- Fu, Yi-Ping, et al.
(författare)
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The 19q12 Bladder Cancer GWAS Signal : Association with Cyclin E Function and Aggressive Disease
- 2014
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Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 74:20, s. 5808-5818
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Tidskriftsartikel (refereegranskat)abstract
- A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein. We performed genetic fine-mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r(2) >= 0.7) associated with increased bladder cancer risk. From this group, we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWASs, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele OR = 1.18 [95% confidence interval (CI), 1.09-1.27, P = 4.67 x 10(-5)] versus OR = 1.01 (95% CI, 0.93-1.10, P = 0.79) for nonaggressive disease, with P = 0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (P = 0.013) and, independently, with each rs7257330-A risk allele (P-trend = 0.024). Overexpression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E overexpression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models.
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| 33. |
- Hosseinzadeh, Griffin, et al.
(författare)
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Photometric Classification of 2315 Pan-STARRS1 Supernovae with Superphot
- 2020
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 905:2
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Tidskriftsartikel (refereegranskat)abstract
- The classification of supernovae (SNe) and its impact on our understanding of explosion physics and progenitors have traditionally been based on the presence or absence of certain spectral features. However, current and upcoming wide-field time-domain surveys have increased the transient discovery rate far beyond our capacity to obtain even a single spectrum of each new event. We must therefore rely heavily on photometric classification-connecting SN light curves back to their spectroscopically defined classes. Here, we present Superphot, an open-source Python implementation of the machine-learning classification algorithm of Villar et al., and apply it to 2315 previously unclassified transients from the Pan-STARRS1 Medium Deep Survey for which we obtained spectroscopic host-galaxy redshifts. Our classifier achieves an overall accuracy of 82%, with completenesses and purities of >80% for the best classes (SNe Ia and superluminous SNe). For the worst performing SN class (SNe Ibc), the completeness and purity fall to 37% and 21%, respectively. Our classifier provides 1257 newly classified SNe Ia, 521 SNe II, 298 SNe Ibc, 181 SNe IIn, and 58 SLSNe. These are among the largest uniformly observed samples of SNe available in the literature and will enable a wide range of statistical studies of each class.
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| 34. |
- Iacoangeli, Alfredo, et al.
(författare)
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SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
- 2021
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Ingår i: Brain Communications. - : Oxford University Press. - 2632-1297. ; 3:4
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Tidskriftsartikel (refereegranskat)abstract
- Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphisms increase risk of Amyotrophic Lateral Sclerosis through expression Quantitative Trait Loci, and whether expression Quantitative Trait Loci expression is consistent across people who had Amyotrophic Lateral Sclerosis and those who did not. In combining public expression Quantitative Trait Loci data with Amyotrophic Lateral Sclerosis genome-wide association studies, we used Summary-data-based Mendelian Randomization to confirm that SCFD1 was the only gene that was genome-wide significant in mediating Amyotrophic Lateral Sderosis risk via expression Quantitative Trait Loci (Summary-data-based Mendelian Randomization beta = 0.20, standard error = 0.04, P-value = 4.29 x 10(-6)). Using post-mortem motor cortex, we tested whether expression Quantitative Trait Loci showed significant differences in expression between Amyotrophic Lateral Sclerosis (n= 76) and controls (n= 25), genome-wide. Of 20 757 genes analysed, the two most sign ificant expression Quantitative Trait Loci to show differential in expression between Amyotrophic Lateral Sclerosis and controls involve two known Amyotrophic Lateral Sclerosis genes (SCFD1 and VCP). Cis-acting SCFD1 expression Quantitative Trait Loci downstream of the gene showed significant differences in expression between Amyotrophic Lateral Sclerosis and controls (top expression Quantitative Trait Lod beta = 0.34, standard error = 0.063, P-value = 4.54 x 10(-7)). These SCFD1 expression Quantitative Trait Loci also significantly modified Amyotrophic Lateral Sclerosis survival (number of samples = 4265, hazard ratio = 1.11, 95% confidence interval = 1.05-1.17, P-value = 2.06 x 10(-4)) and act as an Amyotrophic Lateral Sclerosis trans-expression Quantitative Trait Loci hotspot for a wider network of genes enriched for SCFD1 function and Amyotrophic Lateral Sderosis pathways. Using gene-set analyses, we found the genes that correlate with this trans-expression Quantitative Trait Loci hotspot significantly increase risk of Amyotrophic La teral Sderosis (beta = 0.247, standard deviation = 0.017, P= 0.001) and schizophrenia (beta = 0.263, standard deviation = 0.008, P-value 1.18 x 10(-5)), a disease that genetically correlates with Amyotrophic Lateral Sclerosis. In summary, SCFD1 expression Quantitative Trait Lod are a major factor in Amyotrophic Lateral Sderosis, not only influencing disease risk but are differentially expressed in post-mortem Amyotrophic Lateral Sclerosis. SCFD1 expression Quantitative Trait Loci show distinct expression profiles in Amyotrophic Lateral Sclerosis that correlate with a wider network of genes that also confer risk of the disease and modify the disease's duration.
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| 35. |
- Li, Chen, et al.
(författare)
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- 2020
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Ingår i: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 106:3, s. 389-404
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Tidskriftsartikel (refereegranskat)abstract
- Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
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| 36. |
- Ramirez, Kelly S., et al.
(författare)
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Detecting macroecological patterns in bacterial communities across independent studies of global soils
- 2018
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Ingår i: Nature Microbiology. - : NATURE PUBLISHING GROUP. - 2058-5276. ; 3:2, s. 189-196
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Tidskriftsartikel (refereegranskat)abstract
- The emergence of high-throughput DNA sequencing methods provides unprecedented opportunities to further unravel bacterial biodiversity and its worldwide role from human health to ecosystem functioning. However, despite the abundance of sequencing studies, combining data from multiple individual studies to address macroecological questions of bacterial diversity remains methodically challenging and plagued with biases. Here, using a machine-learning approach that accounts for differences among studies and complex interactions among taxa, we merge 30 independent bacterial data sets comprising 1,998 soil samples from 21 countries. Whereas previous meta-analysis efforts have focused on bacterial diversity measures or abundances of major taxa, we show that disparate amplicon sequence data can be combined at the taxonomy-based level to assess bacterial community structure. We find that rarer taxa are more important for structuring soil communities than abundant taxa, and that these rarer taxa are better predictors of community structure than environmental factors, which are often confounded across studies. We conclude that combining data from independent studies can be used to explore bacterial community dynamics, identify potential 'indicator' taxa with an important role in structuring communities, and propose hypotheses on the factors that shape bacterial biogeography that have been overlooked in the past.
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| 37. |
- Sproviero, William, et al.
(författare)
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ATXN2 trinucleotide repeat length correlates with risk of ALS
- 2017
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Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 51, s. 178.e1-178.e9
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Tidskriftsartikel (refereegranskat)abstract
- We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10(-18)), with an exponential relationship between repeat length and ALS risk for alleles of 29-32 repeats (R(2) = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
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| 38. |
- Villar, V. Ashley, et al.
(författare)
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SuperRAENN : A Semisupervised Supernova Photometric Classification Pipeline Trained on Pan-STARRS1 Medium-Deep Survey Supernovae
- 2020
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 905:2
-
Tidskriftsartikel (refereegranskat)abstract
- Automated classification of supernovae (SNe) based on optical photometric light-curve information is essential in the upcoming era of wide-field time domain surveys, such as the Legacy Survey of Space and Time (LSST) conducted by the Rubin Observatory. Photometric classification can enable real-time identification of interesting events for extended multiwavelength follow-up, as well as archival population studies. Here we present the complete sample of 5243 SN-like light curves (in g(P1)r(P1)i(P1)z(P1)) from the Pan-STARRS1 Medium-Deep Survey (PS1-MDS). The PS1-MDS is similar to the planned LSST Wide-Fast-Deep survey in terms of cadence, filters, and depth, making this a useful training set for the community. Using this data set, we train a novel semisupervised machine learning algorithm to photometrically classify 2315 new SN-like light curves with host galaxy spectroscopic redshifts. Our algorithm consists of an RF supervised classification step and a novel unsupervised step in which we introduce a recurrent autoencoder neural network (RAENN). Our final pipeline, dubbed SuperRAENN, has an accuracy of 87% across five SN classes (Type Ia, Ibc, II, IIn, SLSN-I) and macro-averaged purity and completeness of 66% and 69%, respectively. We find the highest accuracy rates for SNe Ia and SLSNe and the lowest for SNe Ibc. Our complete spectroscopically and photometrically classified samples break down into 62.0% Type Ia (1839 objects), 19.8% Type II (553 objects), 4.8% Type IIn (136 objects), 11.7% Type Ibc (291 objects), and 1.6% Type I SLSNe (54 objects).
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