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1. Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Author

Arthur Gilly, Daniel Suveges, Karoline Kuchenbaecker, Martin Pollard, Lorraine Southam, Konstantinos Hatzikotoulas, Aliki-Eleni Farmaki, Thea Bjornland, Ryan Waples, Emil V. R. Appel, Elisabetta Casalone, Giorgio Melloni, Britt Kilian, Nigel W. Rayner, Ioanna Ntalla, Kousik Kundu, Klaudia Walter, John Danesh, Adam Butterworth, Inês Barroso, Emmanouil Tsafantakis, George Dedoussis, Ida Moltke, and Eleftheria Zeggini

Subjects
Science
Abstract

Rare genetic variants can contribute to complex traits but this contribution is not well understood. Here, the authors analyse deep whole genome sequencing data across 1457 individuals from an isolated Greek population and find association of rare variant burdens with cardiometabolic traits.

Published
2018
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2. Embracing Discomfort: Brexit, Groupthink and the Challenge of True Critical Thinking

Author

Martin Pollard

Subjects
Critical Thinking, Controversy, Debate, Brexit, Political Bias, Philosophy for Children, Argument, Reason, Special aspects of education, LC8-6691
Abstract

This article argues that the left-liberal bias in the teaching profession can stifle genuine critical thinking amongst learners. Schools are increasingly committed to classroom debate about issues like Brexit, but should confront their own internal biases in order to make such debates effective. Methods such as Philosophy for Children, which encourage open-ended discussion and reflection, can support learners to articulate challenging viewpoints. The article argues that all educators should be open to changing their views, and should distinguish between ‘disagreeable’ views that are unacceptable, untrue or merely uncomfortable. Recognising that complex issues may have multiple internally coherent responses, and that not all ‘acceptable’ opinions are on the left of the political spectrum, is vital for encouraging genuine debate within development education.

Published
2018

3. Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Author

Arthur Gilly, Daniel Suveges, Karoline Kuchenbaecker, Martin Pollard, Lorraine Southam, Konstantinos Hatzikotoulas, Aliki-Eleni Farmaki, Thea Bjornland, Ryan Waples, Emil V. R. Appel, Elisabetta Casalone, Giorgio Melloni, Britt Kilian, Nigel W. Rayner, Ioanna Ntalla, Kousik Kundu, Klaudia Walter, John Danesh, Adam Butterworth, Inês Barroso, Emmanouil Tsafantakis, George Dedoussis, Ida Moltke, and Eleftheria Zeggini

Subjects
Science
Abstract

The original version of this Article contained an error in Fig. 2. In panel a, the two legend items “rare” and “common” were inadvertently swapped. This has been corrected in both the PDF and HTML versions of the Article.

Published
2018
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4. Human Chromosome 19 and Related Regions in Mouse: Conservative and Lineage-Specific Evolution

Author

Christopher J. Elkin, Qing Zhang, Paul G. Richardson, Joomyeong Kim, Paramvir S. Dehal, Lisa Stubbs, Paul Predki, Peg Folta, Carol L. Ecale Zhou, Susan Lucas, Trevor Hawkins, Anne S. Olsen, Daniel S. Rokhsar, Elbert Branscomb, Laurie Gordon, Martin Pollard, Astrid Terry, Miriam Land, Ed Uberbacher, Art Kobayashi, and Sam Rash

Subjects
Candidate gene, Genetic Linkage, Gene Dosage, DNA, Satellite, Biology, Genome, Evolution, Molecular, Contig Mapping, Mice, Open Reading Frames, Gene mapping, Molecular evolution, Chromosome 19, Gene Order, Animals, Humans, Gene, Conserved Sequence, Phylogeny, Short Interspersed Nucleotide Elements, Expressed Sequence Tags, Genetics, Multidisciplinary, Terminal Repeat Sequences, Nucleic acid sequence, Chromosome, Chromosome Breakage, Exons, Sequence Analysis, DNA, Long Interspersed Nucleotide Elements, Multigene Family, Chromosomes, Human, Pair 19, Sequence Alignment
Abstract

To illuminate the function and evolutionary history of both genomes, we sequenced mouse DNA related to human chromosome 19. Comparative sequence alignments yielded confirmatory evidence for hypothetical genes and identified exons, regulatory elements, and candidate genes that were missed by other predictive methods. Chromosome-wide comparisons revealed a difference between single-copy HSA19 genes, which are overwhelmingly conserved in mouse, and genes residing in tandem familial clusters, which differ extensively in number, coding capacity, and organization between the two species. Finally, we sequenced breakpoints of all 15 evolutionary rearrangements, providing a view of the forces that drive chromosome evolution in mammals.

Published
2001
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5. Fourier Transform Infrared and Ion-Chromatographic Sulfate Analysis of Ambient Air Samples

Author

Martin Pollard, Joseph Jaklevic, and James Howes

Subjects
Detection limit, Chromatography, Chemistry, Ion chromatography, technology, industry, and agriculture, Analytical chemistry, Infrared spectroscopy, macromolecular substances, Mass spectrometry, Pollution, symbols.namesake, chemistry.chemical_compound, Fourier transform, stomatognathic system, symbols, Environmental Chemistry, lipids (amino acids, peptides, and proteins), General Materials Science, Fourier transform infrared spectroscopy, Sulfate, Air filter
Abstract

Fourier transform infrared (FTIR) spectrometry has been evaluated as a method for determining the sulfate concentration of ambient aerosol particulate samples. Samples were collected on Teflon filters. The filters were analyzed for sulfate by both FTIR and ion chromatography (IC). There is good agreement between sulfate analysis by IC and analysis of the FTIR transmission spectra of the air filters during the first 5 1/2 days of the Carbonaceous Species Methods Intercomparison Study in which the ambient sulfate concentrations were above the 5.8 μg/cm2 lower limit of detection of the FTIR technique. A method to improve the FTIR lower limit of detection is discussed. The difficulties incurred during background subtraction of the infrared spectra are described.

Published
1990
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