Skip to content

Single-Ancestry Fine-Mapping

Use this workflow when you have one population or one cohort per locus. It is a good first run because there are fewer choices to make.

Prepare the Loci List

A single-ancestry loci list still uses the same format:

locus_id    chr start   end popu    cohort  sample_size prefix
locus_1 1   50000000    50500000    EUR cohort1 10000   work/EUR_locus_1

Each prefix must have summary statistics, LD, and LD map files.

Run QC First

QC catches many avoidable mistakes before fine-mapping.

credtools qc loci_list.txt qc_results --threads 4

Look at:

qc_results/qc.txt.gz
qc_results/qc_run_summary.log

If you see many outliers, run QC with removal:

credtools qc loci_list.txt qc_cleaned --threads 4 --remove-outlier

When outlier removal creates cleaned files, the next input is:

qc_cleaned/cleaned/cleaned_loci_info.txt.gz

Run SuSiE

SuSiE is the safest first tool for most single-ancestry runs.

credtools finemap loci_list.txt finemap_susie \
  --tool susie \
  --max-causal 5 \
  --coverage 0.95

If you used cleaned QC output:

credtools finemap qc_cleaned/cleaned/cleaned_loci_info.txt.gz finemap_susie_cleaned \
  --tool susie \
  --max-causal 5

Let CREDTOOLS Pick a Smaller max_causal

The pipeline enables COJO-based L setting by default. For finemap, you can turn it on explicitly:

credtools finemap loci_list.txt finemap_susie_cojo \
  --tool susie \
  --set-L-by-cojo

This is useful when a locus has one or two clear signals and you do not want to overfit with a large max_causal.

Try ABF When You Do Not Have LD

Most tools require LD. ABF can run without an LD matrix, but the result is less rich.

credtools finemap loci_list.txt finemap_abf --tool abf

Use this as a fallback, not as the main plan when good LD is available.

Interpret the Output

The files you will read most often are:

File What to check
pips.txt.gz variants sorted by fine-mapping probability
credible_sets_summary.txt.gz one row per credible set
causal_variants.txt.gz variants assigned to credible sets
parameters.json tool and parameter record

A clean single-ancestry result is not always a small credible set

If variants are in high LD, the tool may be unable to choose one. That is a data limitation, not necessarily a failed run.