Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

Autor: Aaron F. McDaid, Peter K. Joshi, Eleonora Porcu, Andrea Komljenovic, Hao Li, Vincenzo Sorrentino, Maria Litovchenko, Roel P. J. Bevers, Sina Rüeger, Alexandre Reymond, Murielle Bochud, Bart Deplancke, Robert W. Williams, Marc Robinson-Rechavi, Fred Paccaud, Valentin Rousson, Johan Auwerx, James F. Wilson, Zoltán Kutalik

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

Along with various environmental factors, a complex genetic architecture influences human lifespan. Here, McDaid and colleagues reveal novel loci associated with human lifespan and linked biomarkers by Bayesian association scan.

Externí odkaz: https://doaj.org/article/0f5ed7735c3c4bb88a8cf53a6ce62f91

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Autor: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska

Publikováno v: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065

BackgroundPrimary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770
https://doi.org/10.1136/jmedgenet-2021-108065

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Autor: Sunayna, Best, Jing, Yu, Jenny, Lord, Matthew, Roche, Christopher Mark, Watson, Roel P J, Bevers, Alex, Stuckey, Savita, Madhusudhan, Rosalyn, Jewell, Sanjay M, Sisodiya, Siying, Lin, Stephen, Turner, Hannah, Robinson, Joseph S, Leslie, Emma, Baple, Carmel, Toomes, Chris, Inglehearn, Gabrielle, Wheway, S M, Wood

Publikováno v: Journal of medical genetics. 59(12)

BackgroundThe 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human Phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0d91afb5b472257a94d3d856669c7e
https://pubmed.ncbi.nlm.nih.gov/35764379

Extensive tissue-specific expression variation and novel regulators underlying circadian behavior

Autor: Maria, Litovchenko, Antonio C A, Meireles-Filho, Michael V, Frochaux, Roel P J, Bevers, Alessio, Prunotto, Ane Martin, Anduaga, Brian, Hollis, Vincent, Gardeux, Virginie S, Braman, Julie M C, Russeil, Sebastian, Kadener, Matteo, Dal Peraro, Bart, Deplancke

Publikováno v: Science Advances

A dataset of >700 tissue-specific transcriptomes of D. melanogaster reveals population-level molecular circadian clock variation.
Natural genetic variation affects circadian rhythms across the evolutionary tree, but the underlying molecular mech

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3b9dc68fd64d6cc028a944aec234a0a
https://pubmed.ncbi.nlm.nih.gov/33514540

Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel

Autor: Roel P J, Bevers, Maria, Litovchenko, Adamandia, Kapopoulou, Virginie S, Braman, Matthew R, Robinson, Johan, Auwerx, Brian, Hollis, Bart, Deplancke

Publikováno v: Nature metabolism. 1(12)

The nature and extent of mitochondrial DNA variation in a population and how it affects traits is poorly understood. Here we resequence the mitochondrial genomes of 169 Drosophila Genetic Reference Panel lines, identifying 231 variants that stratify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c7a5dd2f0cbab58f56e18760cdfcb8c7
https://pubmed.ncbi.nlm.nih.gov/33820984