@article{1063, abstract = {Severe environmental change can drive a population extinct unless the population adapts in time to the new conditions (“evolutionary rescue”). How does biparental sexual reproduction influence the chances of population persistence compared to clonal reproduction or selfing? In this article, we set up a one‐locus two‐allele model for adaptation in diploid species, where rescue is contingent on the establishment of the mutant homozygote. Reproduction can occur by random mating, selfing, or clonally. Random mating generates and destroys the rescue mutant; selfing is efficient at generating it but at the same time depletes the heterozygote, which can lead to a low mutant frequency in the standing genetic variation. Due to these (and other) antagonistic effects, we find a nontrivial dependence of population survival on the rate of sex/selfing, which is strongly influenced by the dominance coefficient of the mutation before and after the environmental change. Importantly, since mating with the wild‐type breaks the mutant homozygote up, a slow decay of the wild‐type population size can impede rescue in randomly mating populations.}, author = {Uecker, Hildegard}, issn = {0014-3820}, journal = {Evolution}, number = {4}, pages = {845 -- 858}, publisher = {Wiley}, title = {{Evolutionary rescue in randomly mating, selfing, and clonal populations}}, doi = {10.1111/evo.13191}, volume = {71}, year = {2017}, } @article{1065, abstract = {We consider the problem of reachability in pushdown graphs. We study the problem for pushdown graphs with constant treewidth. Even for pushdown graphs with treewidth 1, for the reachability problem we establish the following: (i) the problem is PTIME-complete, and (ii) any subcubic algorithm for the problem would contradict the k-clique conjecture and imply faster combinatorial algorithms for cliques in graphs.}, author = {Chatterjee, Krishnendu and Osang, Georg F}, issn = {0020-0190}, journal = {Information Processing Letters}, pages = {25 -- 29}, publisher = {Elsevier}, title = {{Pushdown reachability with constant treewidth}}, doi = {10.1016/j.ipl.2017.02.003}, volume = {122}, year = {2017}, } @article{1066, abstract = {Simulation is an attractive alternative to language inclusion for automata as it is an under-approximation of language inclusion, but usually has much lower complexity. Simulation has also been extended in two orthogonal directions, namely, (1) fair simulation, for simulation over specified set of infinite runs; and (2) quantitative simulation, for simulation between weighted automata. While fair trace inclusion is PSPACE-complete, fair simulation can be computed in polynomial time. For weighted automata, the (quantitative) language inclusion problem is undecidable in general, whereas the (quantitative) simulation reduces to quantitative games, which admit pseudo-polynomial time algorithms. In this work, we study (quantitative) simulation for weighted automata with Büchi acceptance conditions, i.e., we generalize fair simulation from non-weighted automata to weighted automata. We show that imposing Büchi acceptance conditions on weighted automata changes many fundamental properties of the simulation games, yet they still admit pseudo-polynomial time algorithms.}, author = {Chatterjee, Krishnendu and Henzinger, Thomas A and Otop, Jan and Velner, Yaron}, journal = {Information and Computation}, number = {2}, pages = {143 -- 166}, publisher = {Elsevier}, title = {{Quantitative fair simulation games}}, doi = {10.1016/j.ic.2016.10.006}, volume = {254}, year = {2017}, } @phdthesis{10663, abstract = {The superconducting state of matter enables one to observe quantum effects on the macroscopic scale and hosts many fascinating phenomena. Topological defects of the superconducting order parameter, such as vortices and fluxoid states in multiply connected structures, are often the key ingredients of these phenomena. This dissertation describes a new mode of magnetic force microscopy (Φ0-MFM) for investigating vortex and fluxoid sates in mesoscopic superconducting (SC) structures. The technique relies on the magneto-mechanical coupling of a MFM cantilever to the motion of fluxons. The novelty of the technique is that a magnetic particle attached to the cantilever is used not only to sense the state of a SC structure, but also as a primary source of the inhomogeneous magnetic field which induces that state. Φ0-MFM enables us to map the transitions between tip-induced states during a scan: at the positions of the tip, where the two lowest energy states become degenerate, small oscillations of the tip drive the transitions between these states, which causes a significant shift in the resonant frequency and dissipation of the cantilever. For narrow-wall aluminum rings, the mapped fluxoid transitions form concentric contours on a scan. We show that the changes in the cantilever resonant frequency and dissipation are well-described by a stochastic resonance (SR) of cantilever-driven thermally activated phase slips (TAPS). The SR model allows us to experimentally determine the rate of TAPS and compare it to the Langer-Ambegaokar-McCumber-Halperin (LAMH) theory for TAPS in 1D superconducting structures. Further, we use the SR model to qualitatively study the effects of a locally applied magnetic field on the phase slip rate in rings containing constrictions. The states with multiple vortices or winding numbers could be useful for the development of novel superconducting devices, or the study of vortex interactions and interference effects. Using Φ0-MFM allows us to induce, probe and control fluxoid states in thin wall structures comprised of multiple loops. We show that Φ0-MFM images of the fluxoid transitions allow us to identify the underlying states and to investigate their energetics and dynamics even in complicated structures.}, author = {Polshyn, Hryhoriy}, keywords = {physics, superconductivity, magnetic force microscopy, phase slips}, pages = {103}, publisher = {University of Illinois at Urbana-Champaign}, title = {{Magnetic force microscopy studies of mesoscopic superconducting structures}}, year = {2017}, } @article{1067, abstract = {Embryo morphogenesis relies on highly coordinated movements of different tissues. However, remarkably little is known about how tissues coordinate their movements to shape the embryo. In zebrafish embryogenesis, coordinated tissue movements first become apparent during “doming,” when the blastoderm begins to spread over the yolk sac, a process involving coordinated epithelial surface cell layer expansion and mesenchymal deep cell intercalations. Here, we find that active surface cell expansion represents the key process coordinating tissue movements during doming. By using a combination of theory and experiments, we show that epithelial surface cells not only trigger blastoderm expansion by reducing tissue surface tension, but also drive blastoderm thinning by inducing tissue contraction through radial deep cell intercalations. Thus, coordinated tissue expansion and thinning during doming relies on surface cells simultaneously controlling tissue surface tension and radial tissue contraction.}, author = {Morita, Hitoshi and Grigolon, Silvia and Bock, Martin and Krens, Gabriel and Salbreux, Guillaume and Heisenberg, Carl-Philipp J}, issn = {1534-5807}, journal = {Developmental Cell}, number = {4}, pages = {354 -- 366}, publisher = {Cell Press}, title = {{The physical basis of coordinated tissue spreading in zebrafish gastrulation}}, doi = {10.1016/j.devcel.2017.01.010}, volume = {40}, year = {2017}, } @article{1072, abstract = {Given a finite set of points in Rn and a radius parameter, we study the Čech, Delaunay–Čech, Delaunay (or alpha), and Wrap complexes in the light of generalized discrete Morse theory. Establishing the Čech and Delaunay complexes as sublevel sets of generalized discrete Morse functions, we prove that the four complexes are simple-homotopy equivalent by a sequence of simplicial collapses, which are explicitly described by a single discrete gradient field.}, author = {Bauer, Ulrich and Edelsbrunner, Herbert}, journal = {Transactions of the American Mathematical Society}, number = {5}, pages = {3741 -- 3762}, publisher = {American Mathematical Society}, title = {{The Morse theory of Čech and delaunay complexes}}, doi = {10.1090/tran/6991}, volume = {369}, year = {2017}, } @article{1073, abstract = {Let X and Y be finite simplicial sets (e.g. finite simplicial complexes), both equipped with a free simplicial action of a finite group G. Assuming that Y is d-connected and dimX≤2d, for some d≥1, we provide an algorithm that computes the set of all equivariant homotopy classes of equivariant continuous maps |X|→|Y|; the existence of such a map can be decided even for dimX≤2d+1. This yields the first algorithm for deciding topological embeddability of a k-dimensional finite simplicial complex into Rn under the condition k≤23n−1. More generally, we present an algorithm that, given a lifting-extension problem satisfying an appropriate stability assumption, computes the set of all homotopy classes of solutions. This result is new even in the non-equivariant situation.}, author = {Čadek, Martin and Krcál, Marek and Vokřínek, Lukáš}, issn = {01795376}, journal = {Discrete & Computational Geometry}, number = {4}, pages = {915 -- 965}, publisher = {Springer}, title = {{Algorithmic solvability of the lifting extension problem}}, doi = {10.1007/s00454-016-9855-6}, volume = {54}, year = {2017}, } @article{1074, abstract = {Recently it has become feasible to detect long blocks of nearly identical sequence shared between pairs of genomes. These IBD blocks are direct traces of recent coalescence events and, as such, contain ample signal to infer recent demography. Here, we examine sharing of such blocks in two-dimensional populations with local migration. Using a diffusion approximation to trace genetic ancestry, we derive analytical formulae for patterns of isolation by distance of IBD blocks, which can also incorporate recent population density changes. We introduce an inference scheme that uses a composite likelihood approach to fit these formulae. We then extensively evaluate our theory and inference method on a range of scenarios using simulated data. We first validate the diffusion approximation by showing that the theoretical results closely match the simulated block sharing patterns. We then demonstrate that our inference scheme can accurately and robustly infer dispersal rate and effective density, as well as bounds on recent dynamics of population density. To demonstrate an application, we use our estimation scheme to explore the fit of a diffusion model to Eastern European samples in the POPRES data set. We show that ancestry diffusing with a rate of σ ≈ 50–100 km/√gen during the last centuries, combined with accelerating population growth, can explain the observed exponential decay of block sharing with increasing pairwise sample distance.}, author = {Ringbauer, Harald and Coop, Graham and Barton, Nicholas H}, issn = {0016-6731}, journal = {Genetics}, number = {3}, pages = {1335 -- 1351}, publisher = {Genetics Society of America}, title = {{Inferring recent demography from isolation by distance of long shared sequence blocks}}, doi = {10.1534/genetics.116.196220}, volume = {205}, year = {2017}, } @inproceedings{10745, abstract = {New ways to investigate and manipulate fluxoid and vortex states of mesoscopic superconducting structures are of great interest. The states with multiple vortices or winding numbers could be useful for the study of vortex interactions and interference effects, the braiding of Majorana bound states by winding vortices, and the development of novel superconducting devices. We demonstrate a methodology based on magnetic force microscopy that allows us to induce, probe and control fluxoid states in thin wall structures comprised of multiple loops. By using micro-magnet as a source of inhomogeneous magnetic field, we can efficiently explore the configuration space of fluxoid states. Scanning over the structure reveals the energy crossing points of the lowest laying fluxoid states. This is due the strong interaction of cantilever with thermally activated fluxoid transitions at points of degeneracy. We show that measured patterns of fluxoid transitions allow to identify the states, investigate their energetics, and manipulate them. Further, we show that the dynamics of driven fluxoid transitions can be described by stochastic resonance model, which provides a unique way of measuring fluxoid transition rate and related energy barrier for chosen transitions even in complicated structures}, author = {Polshyn, Hryhoriy and Naibert, Tyler and Budakian, Raffi}, booktitle = {APS March Meeting 2017}, issn = {0003-0503}, location = {New Orleans, LA, United States}, number = {4}, publisher = {American Physical Society}, title = {{ Probing and controlling fluxoid states in multiply-connected mesoscopic superconducting structures}}, volume = {62}, year = {2017}, } @inbook{1075, author = {Wenzl, Bernhard}, booktitle = {Austria and America: 20th-Century Cross-Cultural Encounters}, editor = {Parker, Joshua and Poole, Ralph}, isbn = {978-3643908124}, pages = {73 -- 80}, publisher = {LIT Verlag Berlin-Münster-Wien-Zürich-London}, title = {{An American in Allied-occupied Austria: John Dos Passos Reports on "The Vienna Frontier"}}, volume = {15}, year = {2017}, } @article{1077, abstract = {Viral capsids are structurally constrained by interactions among the amino acids (AAs) of their constituent proteins. Therefore, epistasis is expected to evolve among physically interacting sites and to influence the rates of substitution. To study the evolution of epistasis, we focused on the major structural protein of the fX174 phage family by first reconstructing the ancestral protein sequences of 18 species using a Bayesian statistical framework. The inferred ancestral reconstruction differed at eight AAs, for a total of 256 possible ancestral haplotypes. For each ancestral haplotype and the extant species, we estimated, in silico, the distribution of free energies and epistasis of the capsid structure. We found that free energy has not significantly increased but epistasis has. We decomposed epistasis up to fifth order and found that higher-order epistasis sometimes compensates pairwise interactions making the free energy seem additive. The dN/dS ratio is low, suggesting strong purifying selection, and that structure is under stabilizing selection. We synthesized phages carrying ancestral haplotypes of the coat protein gene and measured their fitness experimentally. Our findings indicate that stabilizing mutations can have higher fitness, and that fitness optima do not necessarily coincide with energy minima.}, author = {Fernandes Redondo, Rodrigo A and Vladar, Harold and Włodarski, Tomasz and Bollback, Jonathan P}, issn = {1742-5689}, journal = {Journal of the Royal Society Interface}, number = {126}, publisher = {Royal Society of London}, title = {{Evolutionary interplay between structure, energy and epistasis in the coat protein of the ϕX174 phage family}}, doi = {10.1098/rsif.2016.0139}, volume = {14}, year = {2017}, } @article{1078, abstract = {One of the key questions in understanding plant development is how single cells behave in a larger context of the tissue. Therefore, it requires the observation of the whole organ with a high spatial- as well as temporal resolution over prolonged periods of time, which may cause photo-toxic effects. This protocol shows a plant sample preparation method for light-sheet microscopy, which is characterized by mounting the plant vertically on the surface of a gel. The plant is mounted in such a way that the roots are submerged in a liquid medium while the leaves remain in the air. In order to ensure photosynthetic activity of the plant, a custom-made lighting system illuminates the leaves. To keep the roots in darkness the water surface is covered with sheets of black plastic foil. This method allows long-term imaging of plant organ development in standardized conditions. }, author = {Von Wangenheim, Daniel and Hauschild, Robert and Friml, Jirí}, journal = {Journal of visualized experiments JoVE}, number = {119}, publisher = {Journal of Visualized Experiments}, title = {{Light sheet fluorescence microscopy of plant roots growing on the surface of a gel}}, doi = {10.3791/55044}, volume = {2017}, year = {2017}, } @article{1079, abstract = {We study the ionization problem in the Thomas-Fermi-Dirac-von Weizsäcker theory for atoms and molecules. We prove the nonexistence of minimizers for the energy functional when the number of electrons is large and the total nuclear charge is small. This nonexistence result also applies to external potentials decaying faster than the Coulomb potential. In the case of arbitrary nuclear charges, we obtain the nonexistence of stable minimizers and radial minimizers.}, author = {Nam, Phan and Van Den Bosch, Hanne}, issn = {1385-0172}, journal = {Mathematical Physics, Analysis and Geometry}, number = {2}, publisher = {Springer}, title = {{Nonexistence in Thomas Fermi-Dirac-von Weizsäcker theory with small nuclear charges}}, doi = {10.1007/s11040-017-9238-0}, volume = {20}, year = {2017}, } @article{1080, abstract = {Reconstructing the evolutionary history of metastases is critical for understanding their basic biological principles and has profound clinical implications. Genome-wide sequencing data has enabled modern phylogenomic methods to accurately dissect subclones and their phylogenies from noisy and impure bulk tumour samples at unprecedented depth. However, existing methods are not designed to infer metastatic seeding patterns. Here we develop a tool, called Treeomics, to reconstruct the phylogeny of metastases and map subclones to their anatomic locations. Treeomics infers comprehensive seeding patterns for pancreatic, ovarian, and prostate cancers. Moreover, Treeomics correctly disambiguates true seeding patterns from sequencing artifacts; 7% of variants were misclassified by conventional statistical methods. These artifacts can skew phylogenies by creating illusory tumour heterogeneity among distinct samples. In silico benchmarking on simulated tumour phylogenies across a wide range of sample purities (15–95%) and sequencing depths (25-800 × ) demonstrates the accuracy of Treeomics compared with existing methods.}, author = {Reiter, Johannes and Makohon Moore, Alvin and Gerold, Jeffrey and Božić, Ivana and Chatterjee, Krishnendu and Iacobuzio Donahue, Christine and Vogelstein, Bert and Nowak, Martin}, issn = {2041-1723}, journal = {Nature Communications}, publisher = {Nature Publishing Group}, title = {{Reconstructing metastatic seeding patterns of human cancers}}, doi = {10.1038/ncomms14114}, volume = {8}, year = {2017}, } @article{7725, abstract = {Phenotypic plasticity is the ability of an individual genotype to alter aspects of its phenotype depending on the current environment. It is central to the persistence, resistance and resilience of populations facing variation in physical or biological factors. Genetic variation in plasticity is pervasive, which suggests its local adaptation is plausible. Existing studies on the adaptation of plasticity typically focus on single traits and a few populations, while theory about interactions among genes (for example, pleiotropy) suggests that a multi-trait, landscape scale (for example, multiple populations) perspective is required. We present data from a landscape scale, replicated, multi-trait experiment using a classic predator–prey system centred on the water flea Daphnia pulex. We find predator regime-driven differences in genetic variation of multivariate plasticity. These differences are associated with strong divergent selection linked to a predation regime. Our findings are evidence for local adaptation of plasticity, suggesting that responses of populations to environmental variation depend on the conditions in which they evolved in the past.}, author = {Reger, Julia and Lind, Martin I. and Robinson, Matthew Richard and Beckerman, Andrew P.}, issn = {2397-334X}, journal = {Nature Ecology & Evolution}, pages = {100--107}, publisher = {Springer Nature}, title = {{Predation drives local adaptation of phenotypic plasticity}}, doi = {10.1038/s41559-017-0373-6}, volume = {2}, year = {2017}, } @article{7727, abstract = {Genes of the major histocompatibility complex (MHC) have been shown to influence social signalling and mate preferences in many species, including humans. First observations suggest that MHC signalling may also affect female fertility. To test this hypothesis, we exposed 191 female horses (Equus caballus) to either an MHC-similar or an MHC-dissimilar stimulus male around the time of ovulation and conception. A within-subject experimental design controlled for non-MHC-linked male characteristics, and instrumental insemination with semen of other males (n = 106) controlled for potential confounding effects of semen or embryo characteristics. We found that females were more likely to become pregnant if exposed to an MHC-dissimilar than to an MHC-similar male, while overall genetic distance to the stimulus males (based on microsatellite markers on 20 chromosomes) had no effect. Our results demonstrate that early pregnancy failures can be due to maternal life-history decisions (cryptic female choice) influenced by MHC-linked social signalling.}, author = {Burger, D. and Thomas, S. and Aepli, H. and Dreyer, M. and Fabre, G. and Marti, E. and Sieme, H. and Robinson, Matthew Richard and Wedekind, C.}, issn = {0962-8452}, journal = {Proceedings of the Royal Society B: Biological Sciences}, number = {1868}, publisher = {The Royal Society}, title = {{Major histocompatibility complex-linked social signalling affects female fertility}}, doi = {10.1098/rspb.2017.1824}, volume = {284}, year = {2017}, } @article{7728, abstract = {Meta-analyses of genome-wide association studies, which dominate genetic discovery, are based on data from diverse historical time periods and populations. Genetic scores derived from genome-wide association studies explain only a fraction of the heritability estimates obtained from whole-genome studies on single populations, known as the ‘hidden heritability’ puzzle. Using seven sampling populations (n = 35,062), we test whether hidden heritability is attributed to heterogeneity across sampling populations and time, showing that estimates are substantially smaller across populations compared with within populations. We show that the hidden heritability varies substantially: from zero for height to 20% for body mass index, 37% for education, 40% for age at first birth and up to 75% for number of children. Simulations demonstrate that our results are more likely to reflect heterogeneity in phenotypic measurement or gene–environment interactions than genetic heterogeneity. These findings have substantial implications for genetic discovery, suggesting that large homogenous datasets are required for behavioural phenotypes and that gene–environment interaction may be a central challenge for genetic discovery.}, author = {Tropf, Felix C. and Lee, S. Hong and Verweij, Renske M. and Stulp, Gert and van der Most, Peter J. and de Vlaming, Ronald and Bakshi, Andrew and Briley, Daniel A. and Rahal, Charles and Hellpap, Robert and Iliadou, Anastasia N. and Esko, Tõnu and Metspalu, Andres and Medland, Sarah E. and Martin, Nicholas G. and Barban, Nicola and Snieder, Harold and Robinson, Matthew Richard and Mills, Melinda C.}, issn = {2397-3374}, journal = {Nature Human Behaviour}, number = {10}, pages = {757--765}, publisher = {Springer Nature}, title = {{Hidden heritability due to heterogeneity across seven populations}}, doi = {10.1038/s41562-017-0195-1}, volume = {1}, year = {2017}, } @article{7729, abstract = {Quantifying the effects of inbreeding is critical to characterizing the genetic architecture of complex traits. This study highlights through theory and simulations the strengths and shortcomings of three SNP-based inbreeding measures commonly used to estimate inbreeding depression (ID). We demonstrate that heterogeneity in linkage disequilibrium (LD) between causal variants and SNPs biases ID estimates, and we develop an approach to correct this bias using LD and minor allele frequency stratified inference (LDMS). We quantified ID in 25 traits measured in ∼140,000 participants of the UK Biobank, using LDMS, and confirmed previously published ID for 4 traits. We find unique evidence of ID for handgrip strength, waist/hip ratio, and visual and auditory acuity (ID between −2.3 and −5.2 phenotypic SDs for complete inbreeding; P<0.001). Our results illustrate that a careful choice of the measure of inbreeding combined with LDMS stratification improves both detection and quantification of ID using SNP data.}, author = {Yengo, Loic and Zhu, Zhihong and Wray, Naomi R. and Weir, Bruce S. and Yang, Jian and Robinson, Matthew Richard and Visscher, Peter M.}, issn = {0027-8424}, journal = {Proceedings of the National Academy of Sciences}, number = {32}, pages = {8602--8607}, publisher = {Proceedings of the National Academy of Sciences}, title = {{Detection and quantification of inbreeding depression for complex traits from SNP data}}, doi = {10.1073/pnas.1621096114}, volume = {114}, year = {2017}, } @article{7731, abstract = {Genetic association studies in admixed populations are underrepresented in the genomics literature, with a key concern for researchers being the adequate control of spurious associations due to population structure. Linear mixed models (LMMs) are well suited for genome-wide association studies (GWAS) because they account for both population stratification and cryptic relatedness and achieve increased statistical power by jointly modeling all genotyped markers. Additionally, Bayesian LMMs allow for more flexible assumptions about the underlying distribution of genetic effects, and can concurrently estimate the proportion of phenotypic variance explained by genetic markers. Using three recently published Bayesian LMMs, Bayes R, BSLMM, and BOLT-LMM, we investigate an existing data set on eye (n = 625) and skin (n = 684) color from Cape Verde, an island nation off West Africa that is home to individuals with a broad range of phenotypic values for eye and skin color due to the mix of West African and European ancestry. We use simulations to demonstrate the utility of Bayesian LMMs for mapping loci and studying the genetic architecture of quantitative traits in admixed populations. The Bayesian LMMs provide evidence for two new pigmentation loci: one for eye color (AHRR) and one for skin color (DDB1).}, author = {Lloyd-Jones, Luke R. and Robinson, Matthew Richard and Moser, Gerhard and Zeng, Jian and Beleza, Sandra and Barsh, Gregory S. and Tang, Hua and Visscher, Peter M.}, issn = {0016-6731}, journal = {Genetics}, number = {2}, pages = {1113--1126}, publisher = {Genetics Society of America}, title = {{Inference on the genetic basis of eye and skin color in an admixed population via Bayesian linear mixed models}}, doi = {10.1534/genetics.116.193383}, volume = {206}, year = {2017}, } @article{7733, abstract = {Sections PDFPDF Tools Share Abstract Background: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. Methods: We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic C9orf72 expansion, but has not been explored for other ALS mutations. Australian patients identified with ALS‐relevant variants were cross‐checked with population databases and case reports to critically assess whether they were “likely causal,” “uncertain significance,” or “unlikely causal.” Results: Published ALS variants were identified in >10% of patients; however, in only 3% of patients (4/120) could these be confidently considered pathogenic (in SOD1 and TARDBP). We found no evidence for a differential DNA methylation signature in these mutation carriers. Conclusions: The use of WES in a typical ALS clinic demonstrates a critical approach to variant assessment with the capability to combine cohorts to enhance the largely unknown genetic basis of ALS.}, author = {Garton, Fleur C. and Benyamin, Beben and Zhao, Qiongyi and Liu, Zhijun and Gratten, Jacob and Henders, Anjali K. and Zhang, Zong-Hong and Edson, Janette and Furlong, Sarah and Morgan, Sarah and Heggie, Susan and Thorpe, Kathryn and Pfluger, Casey and Mather, Karen A. and Sachdev, Perminder S. and McRae, Allan F. and Robinson, Matthew Richard and Shah, Sonia and Visscher, Peter M. and Mangelsdorf, Marie and Henderson, Robert D. and Wray, Naomi R. and McCombe, Pamela A.}, issn = {2324-9269}, journal = {Molecular Genetics & Genomic Medicine}, number = {4}, pages = {418--428}, publisher = {Wiley}, title = {{Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort}}, doi = {10.1002/mgg3.302}, volume = {5}, year = {2017}, }