Table 2

Summary information on the genetic information used in the genotype–phenotype association analyses

Information	Data	Format
Germline genetic sequencing data	Raw sequencing data	FASTQ or BAM files
	Identified genetic variants	VCF files
	Documentation of sequencing procedure and analyses performed to allow trackability of downstream analyses	CSV or TXT files to allow long-term readability
	Quality measures	Read depth, score to evaluate correct variant calling, etc.
Underlying genetic condition	Heritable underlying condition	Description of underlying condition
	Gene name of affected gene	HGVS name
	Identified causal variant	HGVS notation: genomic location, coding DNA and expected effect on protein; rs number if available

BAM, compressed binary file used to represent aligned sequences; CSV, comma separated values; DNA, deoxyribonucleic acid; FASTQ, text file containing the sequence data from the clusters that pass filter on a flow cell; HGVS, Human Genome Variation Society; rs, reference single nucleotide polymorphism identifier; TXT, standard unformatted text document; VCF, variant call format.