Skip to main content
[Preprint]. 2023 Sep 27:2023.09.26.559521. [Version 1] doi: 10.1101/2023.09.26.559521

Table 1 |.

Overview of genetic, epigenetic and transcript features of long-read multi-ome samples

Sample HG001 HG002 UDN318336
Sequencing Statistics: HiFi read yield 98.8 Gb 90.1 Gb 90.3 Gb
HiFi reads 6,268,744 6,000,613 5,902,290
Insert length N50 18,932 bp 17,443 bp 17,221 bp
Median HiFi read QV Q31 Q32 Q31
Genome: gDNA reads 5,716,157 5,359,077 5,563,966
gDNA read length N50 18,785 bp 17,664 bp 16,793 bp
Median coverage of hg38 30x 26x 28x
SNVs (F1) 4,416,098 (99.90%) 4,413,305 (99.94%) 4,396,931 (n.a.)
Indels (F1) 974,414 (98.75%) 973,416 (98.81%) 971,312 (n.a.)
SVs (F1) 23,458 (n.a.) 23,836 (92.5%) 23,201 (n.a.)
% of reads haplotype phased 87.0% 90.0% 87.7%
Assembly size (hap1/hap2) 3,016 Mb / 3,018 Mb 3,010 Mb / 3,010 Mb 3,036 Mb / 3,038 Mb
Number of contigs (hap1/hap2) 1,129 / 1,131 776 / 919 705 / 762
Contig N50 (hap1/hap2) 30.6 Mb / 30.7 Mb 36.3 Mb / 28.8 Mb 40.5 Mb / 27.3 Mb
QV (hap1/hap2) 49.9 / 49.7 50.3 / 50.0 n.a.
mCpG Epigenome: Methylated CpG sites (%) 12,818,712 (45%) 20,252,720 (70%) 20,301,742 (71%)
WGBS correlation (Pearson) 0.79 0.92 n.a.
ONT correlation (Pearson) 0.82 0.93 n.a.
Chromatin Epigenome: Nucleosome size 146 bp 147 bp 138 bp
Number of nucleosomes 441,504,701 332,061,724 360,468,819
FIREs in clusters* 40% 41% 46%
FIREs in ENCODE peaks 66% 67% 75%
Number of FIRE peaks 122,016 84,121 167,752
% of FIRE peaks in ENCODE peaks 91.6 97.3 96.3
Transcriptome: MAS-Seq reads 518,921 604,272 297,248
Transcript reads 2,347,741 3,716,982 2,196,793
Mean transcript length 2,579 bp 2,041 bp 2,798 bp
Total unique genes 10,536 11,512 10,383
Total unique isoforms 40,618 48,967 32,430

FIRE: Fiber-seq Implicated Regulatory Element

Number of significant Fiber-seq peaks in the genome

*

Percent of FIREs preferentially clustered along the genome