diff --git a/README.md b/README.md index ad9811e8..b910616e 100644 --- a/README.md +++ b/README.md @@ -17,17 +17,20 @@ and/or user-defined PGS/PRS. ## Pipeline summary -1. Optionally, fetch a scorefile from the PGS Catalog API -2. Validate and optionally liftover PGS Catalog and/or user-defined scoring file - formats -3. Standardise variant data to a common specification (PLINK2) -4. Match variants in the scoring file against variants in the genotyping data -5. Calculate scores for each sample (handling multiple scores in paralell) -6. Produce a summary report +1. Downloading scoring files using the PGS Catalog API in a specified genome build (GRCh37 and GRCh38). +2. Reading custom scoring files (and performing a liftover if genotyping data is in a different build). +3. Automatically combines and creates scoring files for efficient parallel computation of multiple PGS + - Matching variants in the scoring files against variants in the target dataset (in plink bfile/pfile or VCF format) +4. Calculates PGS for all samples (linear sum of weights and dosages) +5. Creates a summary report to visualize score distributions and pipeline metadata (variant matching QC) ### Features in development -1. Ancestry estimation using reference datasets +- *Genetic Ancestry*: calculate similarity of target samples to populations in a + reference dataset (e.g. [1000 Genomes (1000G)](http://www.nature.com/nature/journal/v526/n7571/full/nature15393.html), + [Human Genome Diversity Project (HGDP)](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115999/)) using principal components analysis (PCA). +- *PGS Normalization*: Using reference population data and/or PCA projections to report + individual-level PGS predictions (e.g. percentiles, z-scores) that account for genetic ancestry. ## Quick start @@ -48,16 +51,16 @@ and/or user-defined PGS/PRS. 4. Start running your own analysis! ```console - nextflow run pgscatalog/pgsc_calc -profile --input samplesheet.csv --accession PGS001229 + nextflow run pgscatalog/pgsc_calc -profile --input samplesheet.csv --pgs_id PGS001229 ``` See [getting -started](https://pgscatalog.github.io/pgsc_calc/getting-started.html) for more +started](https://pgsc-calc.readthedocs.io/en/latest/getting-started.html) for more details. ## Documentation -[Full documentation is available on Read the Docs](https://pgsc-calc.readthedocs.io/en/) +[Full documentation is available on Read the Docs](https://pgsc-calc.readthedocs.io/) ## Credits diff --git a/docs/_templates/globaltoc.html b/docs/_templates/globaltoc.html index f96aa2a9..ab01e935 100644 --- a/docs/_templates/globaltoc.html +++ b/docs/_templates/globaltoc.html @@ -2,12 +2,12 @@

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