Table 1.

Data summary

Genomic technology	PacBio CLR	PacBio HiFi	Illumina	ONT	10X	Strand-seq	Bionano OGM
Source	blood	blood/cellsa	blood	blood	cellsa	cellsa	cellsa
Platform	Sequel	Sequel 2	Hi Seq X Ten	PromethION	Chromium	N/A	N/A
Metric	coverage	coverage	coverage	coverage	mean depth	number of cells	effective coverage of reference
Father	55.5	47.1	37.5	27.5	73.1	66	273.5
Mother	54.5	43.8	33.5	29.0	61.4	63	256.2
Proband	74.4	34.0	41.8	30.8	64.1	56	246.2
Sibling	63.2	30.6	32.9	34.3	41.8	48	294.0
Center	UW	UW	NYGC	CSHL	WU	EMBL	Radboud

For each genomic technology—PacBio continuous long-read (CLR) and high-fidelity (HiFi) sequencing, Oxford Nanopore Technologies (ONT) sequencing, Bionano optical genome mapping (OGM)—the depth of sequencing is given for each member of the family. Coverage is based on genome size of 3.1 Gbp. UW, University of Washington; CSHL, Cold Spring Harbor Laboratory; WU, Washington University; EMBL, European Molecular Biology Laboratory.

^aCells are EBV-transformed lymphoblasts.