Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Journal of genetics

David Salgado²  Martin Krahn1 2²  Marc Bartoli²  Nicolas Levy²  Catherine Badens²  Jean-Pierre Desvignes²  Christophe Beroud²  Christophe Pecheux¹  Laurent Villard²  Caroline Lacoste² 

[1] APHM, Département de Génétique Médicale, Hôpital Timone Enfants, 13385, Marseille, France$$;Aix Marseille Université, INSERM UMR_S 910, GMGF, 13385, Marseille, France$$

关键词: exome;    coverage;    diagnosis;    sequencing;    mutation.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 授权许可】

Unknown