DiscoSnp-RAD: de novo detection of small variants for RAD-Seq population genomics

by Jérémy Gauthier, Charlotte Mouden, Tomasz Suchan, Nadir Alvarez, Nils Arrigo, Chloé Riou, Claire Lemaitre, Pierre Peterlongo
Published 2020-06-01

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

by Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David
Published 2015-01-01