Small island, big genetic discoveries.
Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations, in studying the genetics of complex human phenotypes.
Montreal Heart Institute, Montreal, Quebec, Canada, and the Faculté de Médecine, Université de Montréal, Montreal, Quebec, Canada.
Guillaume
G
Lettre
Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA, the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and the Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Joel N
JN
Hirschhorn
D000328:Adult; D001827:Body Height / Q000235:genetics*; D056726:Genetic Association Studies; D014644:Genetic Variation; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006454:Hemoglobins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D062312:Islands; D007558:Italy; D008055:Lipids / Q000097:blood*; D010641:Phenotype
D006454:Hemoglobins; D008055:Lipids