*Mean coverage of the genome (NCBI build 36) based on mapped reads.#Identified from read-pair mappings.†Identified with read-depth.‡Used as “reference” sample in the read-depth approach.§Bronchial hyp
Many hypothesis driven studies require the ability to comprehensively and efficiently target specific regions of the genome to detect sequence variations. Often, sample availability is limited requiri
Autism spectrum disorder (ASD) and mental retardation (MR) represent clinically distinct neurodevelopmental disorders with a complex genetic etiology. Using microarrays we identified de novo copy numb
Follicular lymphoma cases NGS targeted sequencing n = 31 Files on this record are publicly accessible. Please ask Zenodo permission, as guest or user, and access will be granted.
Detection of variants with each detection method depending on various input DNA amounts. Success and failure of variant detection are indicated by ‘O’ and ‘X,’ respectively. AF, allele frequency; UMI,
