Methods and tools for assessing the impact of genetic variations: The 2017 annual scientific meeting of the Human Genome Variation Society

William Oetting , Christophe Béroud (1) , Steven E Brenner , Marc S Greenblatt (2) , Rachel Karchin , Sean D Mooney

1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 University of Vermont College of Medicine

Keywords: methodology; meeting report; genetic variants; HGVS

Domains: Computer Science [cs]; Bioinformatics [q-bio.QM]; Life Sciences [q-bio]; Genetics; Human genetics; Life Sciences [q-bio]; Biochemistry, Molecular Biology; Molecular biology

William Oetting, Christophe Béroud, Steven E Brenner, Marc S Greenblatt, Rachel Karchin, et al.. Methods and tools for assessing the impact of genetic variations: The 2017 annual scientific meeting of the Human Genome Variation Society. Human Mutation, 2017, 39 (3), pp.454 - 458. ⟨10.1002/humu.23393⟩. ⟨hal-01681669⟩