2 documents found, page 1 of 1
Population genomics of post-glacial western Eurasia
Allentoft, Morten E.; Sikora, Martin; Refoyo-Martínez, Alba; Irving-Pease, Evan K.; Fischer, Anders; Barrie, William; Ingason, Andrés; Stenderup, JesperWestern Eurasia witnessed several large-scale human migrations during the Holocene1,2,3,4,5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses rev...
Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and ...
Courraud, Julie; Russo, Francesco; Espregueira Themudo, Gonçalo; Laursen, Susan Svane; Ingason, Andrés; Hougaard, David M.; Cohen, Arieh S.Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or early adolescence, and little is known of the molecular signaling cascades and biological consequences immediately downstream of the deleted genes. Here, we used...