Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations

Autor: M Elise Lauterbur, Maria Izabel A Cavassim, Ariella L Gladstein, Graham Gower, Nathaniel S Pope, Georgia Tsambos, Jeffrey Adrion, Saurabh Belsare, Arjun Biddanda, Victoria Caudill, Jean Cury, Ignacio Echevarria, Benjamin C Haller, Ahmed R Hasan, Xin Huang, Leonardo Nicola Martin Iasi, Ekaterina Noskova, Jana Obsteter, Vitor Antonio Correa Pavinato, Alice Pearson, David Peede, Manolo F Perez, Murillo F Rodrigues, Chris CR Smith, Jeffrey P Spence, Anastasia Teterina, Silas Tittes, Per Unneberg, Juan Manuel Vazquez, Ryan K Waples, Anthony Wilder Wohns, Yan Wong, Franz Baumdicker, Reed A Cartwright, Gregor Gorjanc, Ryan N Gutenkunst, Jerome Kelleher, Andrew D Kern, Aaron P Ragsdale, Peter L Ralph, Daniel R Schrider, Ilan Gronau

Publikováno v: eLife, Vol 12 (2023)

Simulation is a key tool in population genetics for both methods development and empirical research, but producing simulations that recapitulate the main features of genomic datasets remains a major obstacle. Today, more realistic simulations are pos

Externí odkaz: https://doaj.org/article/ed75e3569fbf474782ef3b9546fe2394

Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts

Autor: Mette K. Andersen, Line Skotte, Emil Jørsboe, Ryan Polito, Frederik F. Stæger, Peter Aldiss, Kristian Hanghøj, Ryan K. Waples, Cindy G. Santander, Niels Grarup, Inger K. Dahl-Petersen, Lars J. Diaz, Maria Overvad, Ninna K. Senftleber, Bolette Søborg, Christina V.L. Larsen, Clara Lemoine, Oluf Pedersen, Bjarke Feenstra, Peter Bjerregaard, Mads Melbye, Marit E. Jørgensen, Nils J. Færgeman, Anders Koch, Thomas Moritz, Matthew P. Gillum, Ida Moltke, Torben Hansen, Anders Albrechtsen

Publikováno v: Andersen, M K, Skotte, L, Jørsboe, E, Polito, R, Stæger, F F, Aldiss, P, Hanghøj, K, Waples, R K, Santander, C G, Grarup, N, Dahl-Petersen, I K, Diaz, L J, Overvad, M, Senftleber, N K, Søborg, B, Larsen, C V L, Lemoine, C, Pedersen, O, Feenstra, B, Bjerregaard, P, Melbye, M, Jørgensen, M E, Færgeman, N J, Koch, A, Moritz, T, Gillum, M P, Moltke, I, Hansen, T & Albrechtsen, A 2022, ' Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts ', Gastroenterology, vol. 162, no. 4, pp. 1171-1182.e3 . https://doi.org/10.1053/j.gastro.2021.12.236
Andersen, M K, Skotte, L, Jørsboe, E, Polito, R, Stæger, F F, Aldiss, P, Hanghøj, K, Waples, R K, Santander, C G, Grarup, N, Dahl-Petersen, I K, Diaz, L J, Overvad, M, Senftleber, N K, Søborg, B, Larsen, C V L, Lemoine, C, Pedersen, O, Feenstra, B, Bjerregaard, P, Melbye, M, Jørgensen, M E, Færgeman, N J, Koch, A, Moritz, T, Gillum, M P, Moltke, I, Hansen, T & Albrechtsen, A 2022, ' Loss of sucrase-isomaltase function increases acetate levels and improves metabolic health in Greenlandic cohorts ', Gastroenterology, vol. 162, no. 4, pp. 1171-1182.e3 . https://doi.org/10.1053/j.gastro.2021.12.236

BACKGROUND & AIMS: The sucrase-isomaltase (SI) c.273_274delAG loss-of-function variant is common in Arctic populations and causes congenital sucrase-isomaltase deficiency, which is an inability to break down and absorb sucrose and isomaltose. Childre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af598bb6586cd15c453ff65560389ba
https://findresearcher.sdu.dk:8443/ws/files/202400420/PIIS0016508521040658.pdf

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An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention

Autor: Emil Jørsboe, Mette K. Andersen, Line Skotte, Frederik F. Stæger, Nils J. Færgeman, Kristian Hanghøj, Cindy G. Santander, Ninna K. Senftleber, Lars J. Diaz, Maria Overvad, Ryan K. Waples, Frank Geller, Peter Bjerregaard, Mads Melbye, Christina V.L. Larsen, Bjarke Feenstra, null Anders Koch, Marit E. Jørgensen, Niels Grarup, Ida Moltke, Anders Albrechtsen, Torben Hansen

Publikováno v: Jørsboe, E, Andersen, M K, Skotte, L, Stæger, F F, Færgeman, N J, Hanghøj, K, Santander, C G, Senftleber, N K, Diaz, L J, Overvad, M, Waples, R K, Geller, F, Bjerregaard, P, Melbye, M, Larsen, C V L, Feenstra, B, Anders Koch, K, Jørgensen, M E, Grarup, N, Moltke, I, Albrechtsen, A & Hansen, T 2022, ' An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100118 . https://doi.org/10.1016/j.xhgg.2022.100118
Human Genetics and Genomics Advances (HGG Advances)

The common Arctic-specific LDLR p.G137S variant was recently shown to be associated with elevated lipid levels. Motivated by this, we aimed to investigate the effect of p.G137S on metabolic health and cardiovascular disease risk among Greenlanders to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810ce420bbc3628efd09f48eb36dc65e
https://doi.org/10.1016/j.xhgg.2022.100118

Allele frequency‐free inference of close familial relationships from genotypes or low‐depth sequencing data

Autor: Anders Albrechtsen, Ryan K. Waples, Ida Moltke

Publikováno v: Molecular Ecology
Waples, R K, Albrechtsen, A & Moltke, I 2019, ' Allele frequency-free inference of close familial relationships from genotypes or low-depth sequencing data ', Molecular Ecology, vol. 28, no. 1, pp. 35-48 . https://doi.org/10.1111/mec.14954

Knowledge of how individuals are related is important in many areas of research, and numerous methods for inferring pairwise relatedness from genetic data have been developed. However, the majority of these methods were not developed for situations w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0195f17b3d8327723e8b8e1b62c94e1
http://europepmc.org/articles/PMC6850436