Low_depth_whole_genome_sequencing_across_multiple_isolated_populations

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Dataset ID	Description	Technology	Samples
EGAD00001002014	Isolated populations have unique population genetics characteristics that can help boost power in genetic association studies for complex traits. Leveraging these advantageous characteristics requires an in-depth understanding of parameters that have shaped sequence variation in isolates. This study performs a comprehensive investigation of these parameters using low-depth whole genome sequencing (WGS) across multiple isolates.		6840

Publications	Citations
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Xue Y, Mezzavilla M, Haber M, McCarthy S, Chen Y, Narasimhan V, Gilly A, Ayub Q, Colonna V, Southam L, Finan C, Massaia A, Chheda H, Palta P, Ritchie G, Asimit J, Dedoussis G, Gasparini P, Palotie A, Ripatti S, Soranzo N, Toniolo D, Wilson JF, Durbin R, Tyler-Smith C, Zeggini E. Nat Commun 8: 2017 15927	54
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. Vuckovic D, Mezzavilla M, Cocca M, Morgan A, Brumat M, Catamo E, Concas MP, Biino G, Franzè A, Ambrosetti U, Pirastu M, Gasparini P, Girotto G. Eur J Hum Genet 26: 2018 1167-1179	22
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability. Concas MP, Morgan A, Serra F, Nagtegaal AP, Oosterloo BC, Seshadri S, Heard-Costa N, Van Camp G, Fransen E, Francescatto M, Logroscino G, Sardone R, Quaranta N, Gasparini P, Girotto G. Genes (Basel) 12: 2021 1228	4
Genetic Dissection of Temperament Personality Traits in Italian Isolates. Concas MP, Minelli A, Aere S, Morgan A, Tesolin P, Gasparini P, Gennarelli M, Girotto G. Genes (Basel) 13: 2021 4	3
Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking? Graham CA, Spedicati B, Pelliccione G, Gasparini P, Concas MP. Foods 12: 2023 1739	2
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort. Pecori A, Luppieri V, Santin A, Spedicati B, Zampieri S, Cadenaro M, Girotto G, Concas MP. Biomedicines 12: 2024 304	2
<i>TAS1R2 rs35874116</i> Associations with Taste, Diet, and Health in an Italian Population. Stevens H, Graham CA, Concas MP, Piluso F, Mavrommatis Y, King A, Pilic L, Gasparini P. Nutrients 17: 2025 329	1
Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI. Modenini G, Mercuri G, Abondio P, Nardone GG, Santin A, Tesolin P, Spedicati B, Pecori A, Pianigiani G, Concas MP, Girotto G, Gasparini P, Boattini A, Mezzavilla M. BMC Genomics 26: 2025 1027	0
Associations of CD36 rs1761667 with Fat and Umami Food Perception, Diet Quality, and BMI in Two European Studies. Piluso F, Graham CA, Stevens H, Camarda S, King A, Pilic L, Mavrommatis Y, Gasparini P, Concas MP. Foods 14: 2025 3813	0