From: Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
A
ALL
KNOWN
NOVEL
Ti/Tv
Total
Het
Hom
3.0
17328
10277
7051
17048
10012
7036
280
265
15
B
INSERTION
DELETION
HET
HOM
NOVEL HOM
427
342
85
228
199
239
188
4