88 research outputs found

    In Support of a Rationally Managed Fishery: Age and Growth in Patagonian Toothfish (\u3ci\u3eDissostichus eleginoides\u3c/i\u3e)

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    Patagonian toothfish (Dissostichus eleginoides) occur on the continental shelves and shelf breaks of southern South America and the Southern Ocean. Stock structure, critical to good fisheries management, can be inferred from growth differences between areas, but available growth data are compromised by inconsistencies in age estimation methods, sampling and sample sizes, and techniques used to derive estimates. I asked the scientific question: how is growth in Patagonian toothfish structured spatially within the Southern Ocean? I developed a multi-stage randomized design to sample fish caught by commercial longline, and an age estimation methodology. Because toothfish are difficult to age, I developed an ANOVA model for estimating precision and accuracy of age data relative to a standard, as the basis for a protocol for quality control of age data. The methodology was used to obtain age data from toothfish taken from the Falkland Islands and South Georgia in the South Atlantic, and the Kerguelen Islands and Heard Island in the southern Indian Ocean. I estimated von Bertalanffy growth parameters for each area, constructed models to describe rival hypotheses of stock mixing and separation between areas, and selected between the models using normal likelihood methods. The abundance of the captured population varied at a scale of c500 m (76% of variance), and between fishing days (24%). Most variation in length composition was captured at scales less than 500 m (79%). I calculated that sampling 16 10-coil lengths of line/day on 36 days of a voyage of 60 days hauling would be the optimal sampling strategy. Significant bias in age estimation was found between readers and between readings by one reader but, once accounted for, precision of age estimation remained similar between sexes; however, a validation test of the accuracy of the age estimation methodology was inconclusive. Growth data supported the hypothesis of stock separation between the Falkland Islands and South Georgia, but not between South Georgia and Kerguelen

    Tying Policy to System: Does the Ross Sea Region Marine Reserve Protect Transport Pathways Connecting the Life History of Antarctic Toothfish?

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    A central objective of the Ross Sea region Marine Protected Area (MPA) is to protect areas important to the life cycle of Antarctic toothfish (Dissostichus mawsoni), a top fish predator and by far the region’s most important commercial species. Juvenile toothfish predominate in deep basins along the inner continental shelf, whereas adults are found mostly along the continental slope and spawning areas on the Pacific-Antarctic Ridge. The inner basins connect to the continental slope via glacial troughs and predictable transport along each trough results in exchange with the Antarctic Slope Current as it flows westward. From the slope, two transport pathways, an eastern one from Iselin Bank and a western one that turns cyclonically along the flank of the Southeast Indian Ridge, connect northward to the Pacific-Antarctic Ridge, where the northern arm of the Ross Gyre and the Antarctic Circumpolar Current flow eastward. Using a circulation model to compare transport pathways connecting toothfish life history areas, we consider which inshore basins are likely most important in contributing to adult spawning aggregations; how transport pathways from each may be expected to influence distributions along the continental slope and Pacific-Antarctic Ridge; and how zonal transport pathways may promote export to areas downstream of the marine reserve. Although the MPA protects some critical life history pathways for toothfish, others remain vulnerable to commercial fishing, and we argue that those in adjacent areas along the Iselin Bank, Pacific-Antarctic Ridge and the Amundsen Sea might usefully be protected, discussing the range of policy instruments available. We also recommend consideration of transport pathways in deliberations for a proposed network of Southern Ocean MPAs, introducing a system-based tool using chemical tracers in otoliths that can test for toothfish movement between areas connected along the Antarctic Slope Current and Antarctic Circumpolar Current

    Spatial Structuring and Life History Connectivity of Antarctic Silverfish Along the Southern Continental Shelf of the Weddell Sea

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    A multi-disciplinary approach was employed to examine a physical-biological population hypothesis for a critical forage species, the Antarctic silverfish Pleuragramma antarctica. Caccavo et al. (2018; Sci Rep 8:17856) had shown strong gene flow along the westward Antarctic Slope Current, in addition to spatially recurring length modes that provided evidence for episodic connectivity. In this paper, otolith nucleus chemistry from a subset of fish collected in the southern Weddell Sea as part of a hydrographic survey of the Filchner Trough system was used to test between connectivity scenarios. Nucleus chemistry, which reflects environmental exposure during early life, showed significant spatial structuring despite homogeneity in microsatellite allele frequencies. Mg:Ca and Sr:Ca differentiated length modes, and Mg:Ca showed significant contrasts between Atka Bay, Halley Bay, and Filchner Trough. Physical-biological mechanisms may help reconcile structuring shown by otolith chemistry, length, and abundance data with prior evidence of gene flow. Such mechanisms include self-recruitment shaped by circulation associated with the Filchner Trough, fluctuations in mixing between immigrant and locally recruited fish, and feeding opportunities between inflowing Modified Warm Deep Water and outflowing Ice Shelf Water. The results illustrate how comparisons between multi-disciplinary techniques based on integrated sampling designs that incorporate hydrography can enhance understanding of population structure and connectivity around the Southern Ocean

    Does Large-Scale Ocean Circulation Structure Life History Connectivity in Antarctic Toothfish (Dissostichus mawsoni)?

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    A multidisciplinary approach incorporating otolith chemistry, age data, and numerical Lagrangian particle simulations indicated a single, self-recruiting population of Antarctic toothfish (Dissostichus mawsoni) in the Southeast Pacific Basin (SPB) and Ross Sea, with a life history structured by the large-scale circulation. Chemistry deposited prior to capture along otolith edges demonstrated strong environmental heterogeneity, yet the chemistry in otolith nuclei, deposited during early life, showed no differences. Age data showed only adult fish in catches on the Pacific-Antarctic Ridge in the SPB and structuring of life stages consistent with transport pathways from the northern Ross Sea. Lagrangian particle simulations predicted that early life stages following the flow in the SPB would be transported to areas in the Ross Sea where juveniles are caught, whereas the circulation would facilitate adult movement along the shelf slope and back into the SPB where spawning adults are caught. These results suggest that successfully spawning fish spend only a part of their adult life history in the Ross Sea, areas in the eastern Ross Sea contribute disproportionately to the spawning population, and areas in the southwestern Ross Sea may supply fisheries in the southern Indian Ocean

    Challenges for adaptation in agent societies

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    The final publication is available at Springer via http://dx.doi.org/[insert DOIAdaptation in multiagent systems societies provides a paradigm for allowing these societies to change dynamically in order to satisfy the current requirements of the system. This support is especially required for the next generation of systems that focus on open, dynamic, and adaptive applications. In this paper, we analyze the current state of the art regarding approaches that tackle the adaptation issue in these agent societies. We survey the most relevant works up to now in order to highlight the most remarkable features according to what they support and how this support is provided. In order to compare these approaches, we also identify different characteristics of the adaptation process that are grouped in different phases. Finally, we discuss some of the most important considerations about the analyzed approaches, and we provide some interesting guidelines as open issues that should be required in future developments.This work has been partially supported by CONSOLIDER-INGENIO 2010 under grant CSD2007-00022, the European Cooperation in the field of Scientific and Technical Research IC0801 AT, and projects TIN2009-13839-C03-01 and TIN2011-27652-C03-01.Alberola Oltra, JM.; Julian Inglada, VJ.; García-Fornes, A. (2014). Challenges for adaptation in agent societies. Knowledge and Information Systems. 38(1):1-34. https://doi.org/10.1007/s10115-012-0565-yS134381Aamodt A, Plaza E (1994) Case-based reasoning; foundational issues, methodological variations, and system approaches. AI Commun 7(1):39–59Abdallah S, Lesser V (2007) Multiagent reinforcement learning and self-organization in a network of agents. In: Proceedings of the sixth international joint conference on autonomous agents and multi-agent systems, pp 172–179Abdu H, Lutfiyya H, Bauer MA (1999) A model for adaptive monitoring configurations. In: Proceedings of the VI IFIP/IEEE IM conference on network management, pp 371–384Alberola JM, Julian V, Garcia-Fornes A (2011) A cost-based transition approach for multiagent systems reorganization. In: Proceedings of the 10th international conference on aut. agents and MAS (AAMAS11), pp 1221–1222Alberola JM, Julian V, Garcia-Fornes A (2012) Multi-dimensional transition deliberation for organization adaptation in multiagent systems. In: Proceedings of the 11th international conference on aut. agents and MAS (AAMAS12) (in press)Argente E, Julian V, Botti V (2006) Multi-agent system development based on organizations. Electron Notes Theor Comput Sci 160(3):55–71Argente E, Botti V, Carrascosa C, Giret A, Julian V, Rebollo M (2011) An abstract architecture for virtual organizations: the Thomas approach. Knowl Inf Syst 29(2):379–403Ashford SJ, Taylor MS (1990) Adaptation to work transitions. An integrative approach. Res Pers Hum Resour Manag 8:1–39Ashford SJ, Blatt R, Walle DV (2003) Reflections on the looking glass: a review of research on feedback-seeking behavior in organizations. J Manag 29(6):773–799Astley WG, Van de Ven AH (1983) Central perspectives and debates in organization theory. Adm Sci Q 28(2):245–273Bond AH, Gasser L (1988) A survey of distributed artificial intelligence readings in distributed artificial intelligence. Morgan Kaufmann, Los AltosBou E, López-Sánchez M, Rodríguez-Aguilar JA (2006) Adaptation of autonomic electronic institutions through norms and institutional agents In: Engineering societies in the agents world. Number LNAI 445, Springer, Dublin, pp 300–319Bou E, López-Sánchez M, Rodríguez-Aguilar JA (2007) Towards self-configuration in autonomic electronic institutions. In: COIN 2006 workshops. Number LNAI 4386, pp 220–235Bou E, López-Sánchez M, Rodríguez-Aguilar JA (2008) Using case-based reasoning in autonomic electronic institutions. In: Proceedings of the 2007 international conference on coordination, organizations, institutions, and norms in agent systems III, pp 125–138Brett JM, Feldman DC, Weingart LR (1990) Feedback-seeking behavior of new hires and job changers. J Manag 16:737–749Bulka B, Gaston ME, desJardins M (2007) Local strategy learning in networked multi-agent team formation. Auton Agents Multi-Agent Syst 15(1):29–45Campos J, López-Sánchez M, Esteva M (2009) Assistance layer, a step forward in multi-agent systems. In: Coordination support international joint conference on autonomous agents and multiagent systems (AAMAS), pp 1301–1302Campos J, Esteva M, López-Sánchez M, Morales J, Salamó M (2011) Organisational adaptation of multi-agent systems in a peer-to-peer scenario. Computing 91(2):169–215Carley KM, and Gasser L (1999) Computational organization theory. Multiagent systems: a modern approach to distributed artificial intelligence. MIT Press, Cambridge, pp 299–330Carvalho G, Almeida H, Gatti M, Vinicius G, Paes R, Perkusich, A, Lucena C (2006) Dynamic law evolution in governance mechanisms for open multi-agent systems. In: Second workshop on software engineering for agent-oriented systemsCernuzzi L, Zambonelli F (2011) Adaptive organizational changes in agent-oriented methodologies. Knowl Eng Rev 26(2):175–190Cheng BH, Lemos R, Giese H, Inverardi P, Magee J (2009) Software engineering for self-adaptive systems: a research roadmap, pp 1–26Corkill DD, Lesser VR (1983) The use of meta-level control for coordination in a distributed problem solving networks. In: Proceedings of the eighth international joint conference on artificial intelligence. IEEE Computer Society Press, pp 748–756Corkill DD, Lander SE (1998) Diversity in agent organizations. Object Mag 8(4):41–47de Paz JF, Bajo J, González A, Rodríguez S, Corchado JM (2012) Combining case-based reasoning systems and support vector regression to evaluate the atmosphere-ocean interaction. Knowl Inf Syst 30(1):155–177DeLoach SA, Matson E (2004) An organizational model for designing adaptive multiagent systems. In: The AAAI-04 workshop on agent organizations: theory and practice (AOTP), pp 66–73DeLoach SA, Oyeman W, Matson E (2008) A capabilities-based model for adaptive organizations. Auton Agents Multi-Agent Syst 16:13–56Dignum V, Dignum F (2001) Modelling agent societies: co-ordination frameworks and institutions progress in artificial intelligence. LNAI 2258, pp 191–204Dignum V (2004) A model for organizational interaction: based on agents, founded in logic. PhD dissertation, Universiteit Utrecht. SIKS dissertation series 2004-1Dignum V, Dignum F, Sonenberg L (2004) Towards dynamic reorganization of agent societies. In: Proceedings of the workshop on coordination in emergent agent societies, pp 22–27Dignum V, Dignum F (2006) Exploring congruence between organizational structure and task performance: a simulation approach coordination, organization, institutions and norms in agent systems I. In: Proceedings of the ANIREM ’05/OOOP ’05, pp 213–230Dignum V, Dignum F (2007) A logic for agent organizations. In: Proceedings of the multi-agent logics, languages, and organisations federated workshops (MALLOW ’007), formal approaches to multi-agent systems (FAMAS ’007) workshopFox MS (1981) Formalizing virtual organizations. IEEE Transact Syst Man Cybern 11(1):70–80Gaston ME, desJardins M (2005) Agent-organized networks for dynamic team formation. In: Proceedings of the fourth international joint conference on autonomous agents and multiagent systems, pp 230–237Gaston ME, desJardins M (2008) The effect of network structure on dynamic team formation in multi-agent systems. Comput Intell 24(2):122–157Norbert G, Philippe M (1997) The reorganization of societies of autonomous agents. In: MAAMAW-97. Springer, London, pp 98–111Goldman CV, Rosenschein JS (1997) Evolving organizations of agents American association for artificial intelligence. In: Multiagent learning workshop at AAAI97Greve HR (1998) Performance, aspirations, and risky organizational change. Adm Sci Quart 43(1):58–86Guessoum Z, Ziane M, Faci N (2004) Monitoring and organizational-level adaptation of multi-agent systems. In: Proceedings of the AAMAS ’04, pp 514–521Hoogendoorn M, Treur J (2006) An adaptive multi-agent organization model based on dynamic role allocation. In: Proceedings of the IAT ’06, pp 474–481Horling B, Benyo B, Lesser V (1999) Using self-diagnosis to adapt organizational structures. In: Proceedings of the 5th international conference on autonomous agents, pp 529–536Horling B, Lesser V (2005) A survey of multi-agent organizational paradigms. Knowl Eng Rev 19(4): 281–316Hrebiniak LG, Joyce WF (1985) Organizational adaptation: strategic choice and environmental determinism. Adm Sci Quart 30(3):336–349Hübner JF, Sichman JS, Boissier O (2002) MOISE+: towards a structural, functional, and deontic model for MAS organization. In: Proceedings of the first international joint conference on autonomous agents and multiagent systems, pp 501–502Hübner JF, Sichman JS, Boissier O (2004) Using the MOISE+ for a cooperative framework of MAS reorganisation. In: Proceedings of the 17th Brazilian symposium on artificial intelligence (SBIA ’04), vol 3171, pp 506–515Hübner JF, Boissier O, Sichman JS (2005) Specifying E-alliance contract dynamics through the MOISE + reorganisation process Anais do V Encontro Nacional de Inteligde Inteligncia Artificial (ENIA 2005)Jennings NR (2001) An agent-based approach for building complex software systems. Commun ACM 44(4):35–41Kamboj S, Decker KS (2006) Organizational self-design in semi-dynamic environments In: 2007 IJCAI workshop on agent organizations: models and simulations (AOMS@IJCAI), pp 335–337Katz D, Kahn RL (1966) The social psychology of organizations. Wiley, New YorkKelly D, Amburgey TL (1991) Organizational inertia and momentum: a dynamic model of strategic change. Acad Manag J 34(3):591–612Kephart J, Chess DM (2003) The vision of autonomic computing. Computer 36(1):41–50Kim DH (1993) The link between individual and organizational learning. Sloan Manag Rev 35(1):37–50Kota R, Gibbins N, Jennings NR (2009a) Decentralised structural adaptation in agent organisations organized adaptation in multi-agent systems, pp 54–71Kota R, Gibbins N, Jennings NR (2009b) Self-organising agent organisations. In: Proceedings of the 8th international conference on autonomous agents and multiagent systems (AAMAS 2009)Kota R, Gibbins N, Jennings NR (2012) Decentralised approaches for self-adaptation in agent organisations. ACM Trans Auton Adapt Syst 7(1):1–28Kotter J, Schlesinger L (1979) Choosing strategies for change. Harv Bus Rev 106–1145Lesser VR (1998) Reflections on the nature of multi-agent coordination and its implications for an agent architecture. Auton Agents Multi-Agent Syst 89–111Levitt B, March JG (1988) Organizational learning. Annu Rev Sociol 14:319–340Luck M, McBurney P, Shehory O, Willmott S (2005) Agent technology: computing as interaction (a roadmap for agent based computing)Mathieu P, Routier JC, Secq Y (2002a) Dynamic organization of multi-agent systems. In: Proceedings of the first international joint conference on autonomous agents and multiagent systems: part 1, pp 451–452Mathieu P, Routier JC, Secq Y (2002b) Principles for dynamic multi-agent organizations. In: Proceedings of the 5th Pacific rim international workshop on multi agents: intelligent agents and multi-agent systems, pp 109–122Matson E, DeLoach S (2003) Using dynamic capability evaluation to organize a team of cooperative, autonomous robots. In: Proceedings of the 2003 international conference on artificial intelligence (IC-AI ’03), Las Vegas, pp 23–26Matson E, DeLoach S (2004) Enabling intra-robotic capabilities adaptation using an organization-based multiagent system. ICRA, pp 2135–2140Matson E, DeLoach S (2005) Formal transition in agent organizations. In: IEEE international conference on knowledge intensive multiagent systems (KIMAS ’05)Matson E, Bhatnagar R (2006) Properties of capability based agent organization transition. In: Proceedings of the IEEE/WIC/ACM international conference on intelligent agent technology IAT ’06, pp 59–65Morales J, López-Sánchez M, Esteva, M (2011) Using experience to generate new regulations. In: Proceedings of the twenty-second international joint conference on artificial Intelligence (IJCAI-11), pp 307–312Muhlestein D, Lim S (2011) Online learning with social computing based interest sharing. Knowl Inf Syst 26(1):31–58Nair R, Tambe M, Marsella S (2003) Role allocation and reallocation in multiagent teams: towards a practical analysis. In: Proceedings of the second AAMAS ’03, pp 552–559Orlikowski WJ (1996) Improvising organizational transformation over time: a situated change perspective. Inf Syst Res 7(1):63–92Panait L, Luke S (2005) Cooperative multi-agent learning: the state of the art. Auton Agents Multi-Agent Syst 11:387–434Ringold PL, Alegria J, Czaplewski RL, Mulder BS, Tolle T, Burnett K (1996) Adaptive monitoring design for ecosystem management. Ecol Appl 6(3):745–747Routier J, Mathieu P, Secq Y (2001) Dynamic skill learning: a support to agent evolution. In: Proceedings of the artificial intelligence and the simulation of behaviour symposium on adaptive agents and multi-agent systems (AISB ’01), pp 25–32Scott RW (2002) Organizations: rational, natural, and open systems, 5th edn. Prentice Hall International, New YorkSeelam A (2009) Reorganization of massive multiagent systems: MOTL/O http://books.google.es/books?id=R-s8cgAACAAJ . Southern Illinois University CarbondaleSo Y, Durfee EH (1993) An organizational self-design model for organizational change. In: AAAI93 workshop on AI and theories of groups and oranizations, pp 8–15So Y, Durfee EH (1998) Designing organizations for computational agents. Simulating organizations. MIT Press, Cambridge, pp 47–64Schwaninger M (2000) A theory for optimal organization. Technical report. Institute of Management at the University of St. Gallen, SwitzerlandTantipathananandh C, Berger-Wolf TY (2011) Finding communities in dynamic social networks. In: IEEE 11th international conference on data mining 2011, pp 1236–1241Wang Z, Liang X (2006) A graph based simulation of reorganization in multi-agent systems. In: IEEE WICACM international conference on intelligent agent technology, pp 129–132Wang D, Tse Q, Zhou Y (2011) A decentralized search engine for dynamic web communities. Knowl Inf Syst 26(1):105–125Weick KE (1979) The social psychology of organizing, 2nd edn. Addison-Wesley, ReadingWeyns D, Haesevoets R, Helleboogh A, Holvoet T, Joosen W (2010a) The MACODO middleware for context-driven dynamic agent organizations. ACM Transact Auton Adapt Syst 3:1–3:28Weyns D, Malek S, Andersson J (2010b) FORMS: a formal reference model for self-adaptation. In: Proceedings of the 7th international conference on autonomic computing, pp 205–214Weyns D, Georgeff M (2010) Self-adaptation using multiagent systems. IEEE Softw 27(1):86–91Zhong C (2006) An investigation of reorganization algorithms. Master-thesi

    KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

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    Kinase suppressor of Ras 2 (KSR2) is an intracellular scaffolding protein involved in multiple signaling pathways. Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. We explored the role of KSR2 in humans by sequencing 2,101 individuals with severe early-onset obesity and 1,536 controls. We identified multiple rare variants in KSR2 that disrupt signaling through the Raf-MEKERK pathway and impair cellular fatty acid oxidation and glucose oxidation in transfected cells; effects that can be ameliorated by the commonly prescribed antidiabetic drug, metformin. Mutation carriers exhibit hyperphagia in childhood, low heart rate, reduced basal metabolic rate and severe insulin resistance. These data establish KSR2 as an important regulator of energy intake, energy expenditure, and substrate utilization in humans. Modulation of KSR2-mediated effects may represent a novel therapeutic strategy for obesity and type 2 diabetes.This work was supported by the Wellcome Trust (098497/Z/12/Z; 077016/Z/05/Z; 096106/Z/11/Z) (ISF and LRP), Medical Research Council (MC_U106179471) (NW), NIHR Cambridge Biomedical Research Centre (ISF, IB and SOR), and European Research Council (ISF). This study makes use of data generated by the UK10K Consortium (WT091310). A full list of the investigators who contributed to the generation of the data is available from http://www.UK10K.org.This is the final published version. It first appeared at http://www.cell.com/abstract/S0092-8674%2813%2901276-2

    The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance

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    In this study, the impact of the apolipoprotein B mRNA-editing catalytic subunit-like (APOBEC) enzyme APOBEC3B (A3B) on epidermal growth factor receptor (EGFR)-driven lung cancer was assessed. A3B expression in EGFR mutant (EGFRmut) non-small-cell lung cancer (NSCLC) mouse models constrained tumorigenesis, while A3B expression in tumors treated with EGFR-targeted cancer therapy was associated with treatment resistance. Analyses of human NSCLC models treated with EGFR-targeted therapy showed upregulation of A3B and revealed therapy-induced activation of nuclear factor kappa B (NF-κB) as an inducer of A3B expression. Significantly reduced viability was observed with A3B deficiency, and A3B was required for the enrichment of APOBEC mutation signatures, in targeted therapy-treated human NSCLC preclinical models. Upregulation of A3B was confirmed in patients with NSCLC treated with EGFR-targeted therapy. This study uncovers the multifaceted roles of A3B in NSCLC and identifies A3B as a potential target for more durable responses to targeted cancer therapy.</p

    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

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    Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.JW is supported by a Cancer Research UK Cambridge Cancer Centre Clinical Research Training Fellowship. Funding for the NIHR BioResource – Rare diseases project was provided by the National Institute for Health Research (NIHR, grant number RG65966). ERM acknowledges support from the European Research Council (Advanced Researcher Award), NIHR (Senior Investigator Award and Cambridge NIHR Biomedical Research Centre), Cancer Research UK Cambridge Cancer Centre and Medical Research Council Infrastructure Award. The University of Cambridge has received salary support in respect of EM from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health. DGE is an NIHR Senior Investigator and is supported by the all Manchester NIHR Biomedical Research Centre
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