NextSeq 500 paired end sequencing; Whole exome sequencing of skin or bone marrow biopsies in Fanconi anemia patients
Whole exome sequencing of skin or bone marrow biopsies in Fanconi anemia patients
Bone marrow aspirate or skin biopsy QIAamp DNA kit (Qiagen) Agilent SureSelect_Human_All_Exon_V5_UTR protocol