1Reads
2SNV
3CNV
4Panel/Exom/Genom
5Filter
6ACMG
7Short/Long
8Pathway
Panel
50 genes
500x
Exome
20.000 genes
100x
Genome
3.2 Gb
30x
Raw variants
4,500,000
Quality (PASS)
3,800,000
MAF < 1%
45,000
Coding / Splice
800
Protein effect
350
Gene list
12
Segregation (AR)
2
ACMG evaluation
1
Pathogenic
Benign
VUS
0 points
Illumina (Short-Read, 2×150 bp)
PacBio HiFi / ONT (Long-Read, 10–25 kb)
1%
VUS
0 points
Sequencing & Genome Analysis Quiz
From read interpretation to ACMG classification — test your diagnostic skills.