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Question regarding the calculation of effective genome size for GRCh38 #1426
The effective genome size values calculated using faCount on your page are consistent with those cited in the MACS3 manual. However, when I tried to calculate the effective genome size for GRCh38 using faCount myself, I noticed a discrepancy. The value provided in the deepTools manual is 2,913,022,398, but my calculated value (total number of bases minus the number of bases marked as 'N') is 3291585349 - 161334594 = 3,130,250,755.
$ faCount -summary Homo_sapiens.GRCh38.dna_sm.toplevel.fa
#seq len A C G T N cpg
total 3291585349 921201511 641188132 643863766 923997346 161334594 32009347
prcnt 1.0 0.2799 0.1948 0.1956 0.2807 0.0490 0.0097
Initially, I thought I might have chosen the wrong file or misunderstood the calculation method. However, when I applied the exact same method to the same type of fasta file (dna_sm.toplevel.fa) for GRCm39, my calculated effective genome size perfectly matched the value in the deepTools documentation (2728222451 - 73600668 = 2,654,621,783) :
$ faCount -summary Mus_musculus.GRCm39.dna_sm.toplevel.fa
#seq len A C G T N cpg
total 2728222451 773810649 553008665 553055957 774746512 73600668 21922699
prcnt 1.0 0.2836 0.2027 0.2027 0.2840 0.0270 0.0080
Therefore, I am a bit confused about how the effective genome size for GRCh38 in the documentation was actually calculated. Could someone please help clarify this for me?
Additionally, the effective genome size for GRCh38 that I calculated using unique-kmers.py (2884242992) also shows a slight difference from the value provided in the deepTools manual (2862010428). In contrast, the effective genome size for GRCm39 calculated with unique-kmers.py (2495461690) is consistent with the manual. (The command used for both was: unique-kmers.py -k 150 -e 0.01 ref_fasta.fa.gz).
For your reference, the specific reference genome versions I used are GRCh38.p14 (GCA_000001405.29) and GRCm39 (GCA_000001635.9).
Hiya, sorry for the delay in answering. Your approach was correct. I presume the discrepancy was due to (much) older patch versions. I've included a script to reproduce the table, with the latest versions of every genome listed, and this is resolved. Thanks for reporting !
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jqming123 commentedon Mar 20, 2026
Additionally, the effective genome size for GRCh38 that I calculated using
unique-kmers.py(2884242992) also shows a slight difference from the value provided in the deepTools manual (2862010428). In contrast, the effective genome size for GRCm39 calculated with unique-kmers.py (2495461690) is consistent with the manual. (The command used for both was:unique-kmers.py -k 150 -e 0.01 ref_fasta.fa.gz).For your reference, the specific reference genome versions I used are GRCh38.p14 (GCA_000001405.29) and GRCm39 (GCA_000001635.9).
WardDeb commentedon Sep 20, 2026
Hiya, sorry for the delay in answering. Your approach was correct. I presume the discrepancy was due to (much) older patch versions. I've included a script to reproduce the table, with the latest versions of every genome listed, and this is resolved. Thanks for reporting !