Table 1 |.
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