. 2021 Jan 16;2(2):100023. doi: 10.1016/j.xhgg.2021.100023

Table 1.

Probands selected for PacBio sequencing

Family ID	Proband gender	Race	Major phenotypic features	Previous genetic testing				PacBio CCS coverage (P/D/M)	Average insert size (bp) (P/D/M)
Family ID	Proband gender	Race	Major phenotypic features	Array	Single gene test(s) or panel(s)^a	ES/GS	Other normal test results	PacBio CCS coverage (P/D/M)	Average insert size (bp) (P/D/M)
1	F	C	seizures, facial dysmorphism, hypotonia	normal	normal ×2	no findings (both)	karyotype	25×/10×/11×	12,655/12,238/12,884
2	F	AA	ID, seizures, hypotonia	normal	normal ×7	no findings (both)	mito	26×/16×/12×	12,651/12,865/12,600
3	M	C	ID, seizures	VUS dup	normal ×3	no findings (GS)	fragile X	35×/19×/22×	14,393/16,604/16,344
4	F	C/AA	ID, facial dysmorphism, hypotonia	normal	normal ×1	no findings (GS)	fragile X	44×/14×/20×	11,420/11,555/11,197
5	M	C	ID, seizures, speech delay, brain MRI abnormalities	normal	normal ×4	no findings (GS)	mito	30×/16×/20×	21,145/19,264/21,568
6	F	C	ID, seizures, speech delay	normal	NP	no findings (GS)	NP	33×/19×/14×	12,452/12,183/13,641

ES/GS, exome sequencing/genome sequencing; P, proband; D, dad; M, mom; F, female; M, male; C, Caucasian; AA, African American; ID, intellectual disability; NP, not performed.

Some VUS SNVs have been reported in these probands.