Hg38 swiss-create-data issue and raising the p-value

[smcamcamca]

Command-line used to cause the issue

swiss-create-data --genome-build GRCh38p12 --dbsnp-build b151

Problem description

Hello,

I am trying to loosen the p-value threshold for GWAS catalog variants to 5e-05 using the --gwas-cat-p option. It runs fine, but I noticed the output is identical to using the default of 5e-08 (the lowest/least significant GWAS_LOG_PVAL was 7.3 for both runs). This was the command I used:

swiss --assoc input_file.tsv --delim tab --build hg38  --gwas-cat-p 5e-05  --out output_file

I assumed this might be related to filtering done on the data provided by swiss ---download-data, so I tried to download my own hg38 genome build using swiss-create-data but I get the error below. I have also tried GRCh38p13 and GRCh38 with the same issue.

Thank you!

Program output

Genome build: GRCh38p12
dbSNP build: b151
Downloading rsID merge history...
RsMergeArch.bcp.gz: 153MB [00:32, 4.78MB/s]
Downloading rsID deletion history...
SNPHistory.bcp.gz: 106MB [00:32, 3.25MB/s]
Downloading NCBI dbSNP VCF for b151 / GRCh38p12 @ ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b151_GRCh38p12/VCF/00-All.vcf.gz
00-All.vcf.gz: 0.00B [00:00, ?B/s]
Traceback (most recent call last):
File "/home/user/.conda/envs/gwas_swiss/bin/swiss-create-data", line 22, in
main()
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/site-packages/swiss/create_data.py", line 671, in main
vcf_path = download_dbsnp_vcf(opts.dbsnp_build,opts.genome_build)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/site-packages/swiss/create_data.py", line 129, in download_dbsnp_vcf
urlretrieve(url,filename=outpath,reporthook=tqdm_hook(t),data=None)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 98, in urlretrieve
return opener.retrieve(url, filename, reporthook, data)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 247, in retrieve
fp = self.open(url, data)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 215, in open
return getattr(self, name)(url)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 552, in open_ftp
ftpwrapper(user, passwd, host, port, dirs)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 879, in init
self.init()
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/urllib.py", line 891, in init
self.ftp.cwd(_target)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/ftplib.py", line 574, in cwd
return self.voidcmd(cmd)
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/ftplib.py", line 256, in voidcmd
return self.voidresp()
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/ftplib.py", line 231, in voidresp
resp = self.getresp()
File "/home/user/.conda/envs/gwas_swiss/lib/python2.7/ftplib.py", line 226, in getresp
raise error_perm, resp
IOError: [Errno ftp error] 550 snp/organisms/human_9606_b151_GRCh38p12/VCF: No such file or directory

Swiss version

1.1.1

[welchr]

Looks like there's only a GRCh38p7 on their FTP. The VCF appears to be rather out of date at this point (2018).

They seem to have changed how they do dbSNP VCF releases, with the latest VCF now at:

https://ftp.ncbi.nih.gov/snp/redesign/latest_release/VCF/GCF_000001405.39.gz (GRCh38p13, dbSNP 155)

Unfortunately the new VCF is a bit different and wouldn't be parsed correctly by the program. In particular they've switched to using RefSeq sequence IDs for chromosomes.