Awesome

Getting Started

# Download and install evaluation suite (Linux only)
curl -L https://github.com/lh3/CHM-eval/releases/download/v0.4/CHM-evalkit-20180221.tar \
    | tar xf -
# Call CHM1-CHM13 variants in the GRCh37 coordinate (will take a while...)
wget -qO- ftp://ftp.sra.ebi.ac.uk/vol1/run/ERR134/ERR1341796/CHM1_CHM13_2.bam \
    | freebayes -f hs37.fa - > CHM1_CHM13_2.raw.vcf
# Filter (use your own filters if you like)
CHM-eval.kit/run-flt -o CHM1_CHM13_2.flt CHM1_CHM13_2.raw.vcf
# Distance-based evaluation
CHM-eval.kit/run-eval -g 37 CHM1_CHM13_2.flt.vcf.gz | sh
more CHM1_CHM13_2.flt.summary
# Evaluating allele and genotype accuracy (Java required)
CHM-eval.kit/rtg format -o hs37.sdf hs37.fa   # if you haven't done this before
CHM-eval.kit/run-eval -g 37 -s hs37.sdf CHM1_CHM13_2.flt.vcf.gz | sh
more CHM1_CHM13_2.flt.rtg.summary

Introduction

CHM-eval, aka Syndip, is a benchmark dataset for evaluating the accuracy of small variant callers. It is constructed from the PacBio assembilies of two independent CHM cell lines using procedures largely orthogonal to the methodology used for short-read variant calling, which makes it more comprehensive and less biased in comparison to existing benchmark datasets. The following figure briefly explains how this dataset was generated:

The truth data can be downloaded from the release page. The package contains the list of confident regions, phased variant calls including thousands of long insertions/deletions, and evaluation scripts (see below). Illumina short reads sequenced from the two cell lines and from the experimental mixture of the two cell lines are availble via project PRJEB13208 at ENA.

CHM-eval.kit
|-- 00README.md              # this file
|-- 01ori
|   |-- func-37d5.bed.gz -> func-37m.bed.gz
|   |-- func-37m.bed.gz      # coding and conserved regions (from EnsEMBL) in GRCh37
|   |-- func-38.bed.gz       # coding and conserved regions in GRCh38
|   |-- syndip.m37d5.bed.gz  # confident regions including poly-A (for alignment against GRCh37+decoy)
|   |-- syndip.m37m.bed.gz   # for alignment against GRCh37 primary assembly without decoy
|   `-- syndip.m38.bed.gz    # for alignment against GRCh38 primary assembly
|-- RTG-LICENSE.txt
|-- RTG.jar                  # rtg-tools v3.8.4 (for evaluating allele/genotype accuracy)
|-- full.37d5.bed.gz         # whole-genome confident regions excluding poly-A (against GRCh37+decoy)
|-- full.37d5.vcf.gz         # whole-genome phased variant calls, including filtered
|-- full.37m.bed.gz          # for alignment against GRCh37 without decoy
|-- full.37m.vcf.gz
|-- full.38.bed.gz           # for alignment against GRCh38
|-- full.38.vcf.gz
|-- func.37d5.bed.gz         # intersection of full.37d5.bed.gz and 01src/func-37d5.bed.gz
|-- func.37m.bed.gz
|-- func.38.bed.gz
|-- hapdip.js                # script for evaluating distance-based accuracy
|-- htsbox                   # htsbox-r345; auxiliary tool
|-- k8                       # k8 javascript shell, for running hapdip.js
|-- rtg                      # rtg portal script
|-- rtg.cfg
|-- run-eval                 # key evaluation script
|-- sdust30-37d5.bed.gz      # low-complexity regions identified with SDUST at T=30
|-- sdust30-37m.bed.gz -> sdust30-37d5.bed.gz
|-- sdust30-38.bed.gz
|-- um35-hs37d5.bed.gz       # universal mask for GRCh37+decoy; for 35bp reads (Mallick et al, 2016)
`-- um75-hs37d5.bed.gz       # for 75bp or longer reads

If you use this dataset, please cite:

Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D (2018) A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods, 15:595-597. [PMID:30013044]