Local adaptation and archaic introgression shape global diversity at human structural variant loci

<p>Supporting data associated with the manuscript &quot;Local adaptation and archaic introgression shape global diversity at human structural variant loci&quot;. These include:</p> <ul> <li>structural variant genotypes (Paragraph; <a href="https://github.com/Illumina/paragraph">https://github.com/Illumina/paragraph</a>)</li> <li>eQTL mapping results (fastqtl permutation pass; see <a href="http://fastqtl.sourceforge.net/">http://fastqtl.sourceforge.net/</a> for column descriptions)</li> <li>eQTL fine-mapping results (CAVIAR; see <a href="http://genetics.cs.ucla.edu/caviar/index.html">http://genetics.cs.ucla.edu/caviar/index.html</a>)</li> <li>structural variant selection scan results (Ohana; <a href="https://github.com/jade-cheng/ohana">https://github.com/jade-cheng/ohana</a>)</li> </ul> <p>Description of files in this directory:</p> <p><strong>Structural variant genotypes</strong></p> <p><code>SVs_paragraphFormat.vcf.gz</code> - merged long-read structural variant calls</p> <p><code>SVs_1KGP_pgGTs.vcf.gz</code> - genotypes for 1000 Genomes samples in VCF format</p> <p><strong>eQTL mapping results</strong></p> <p><code>fastqtl_out.txt</code> - results from fastQTL permutation pass; see <a href="http://fastqtl.sourceforge.net/">http://fastqtl.sourceforge.net/</a> for column descriptions</p> <p><code>caviar_out.txt</code> - results from fine-mapping SNPs and SVs at significant SV eQTL loci with CAVIAR. Description of columns:</p> <ul> <li>query_sv: SV that was a significant eQTL and underwent fine-mapping</li> <li>gene_id: gene exhibiting an expression association with the query_sv</li> <li>var_id: variant (SNV or SV) that was tested for expression association with the above gene&nbsp;in the fine-mapping analysis</li> <li>var_in_credible_causal_set: Boolean variable denoting whether the above variant is in the 95% credible causal set</li> <li>prob_in_pcausal_set: the amount that this variant contributes to 95% credible causal set</li> <li>causal_post_prob: the posterior probability that the variant is causal in the expression association</li> </ul> <p><strong>Structural variant selection scan results</strong></p> <p><code>chr21_pruned_50_Q.matrix</code> - admixture proportion matrix (generated by Ohana; <a href="https://github.com/jade-cheng/ohana">https://github.com/jade-cheng/ohana</a>)</p> <p><code>chr21_pruned_50_F.matrix</code> - matrix of inferred ancestral allele frequencies (generated by Ohana)</p> <p><code>chr21_pruned_50_C.matrix</code> - matrix of ancestry component covariances (generated by Ohana) Entries of the matrix can be modified to produce &quot;selection hypothesis&quot; matrices where allele frequencies are allowed to vary in one ancestry component (<a href="https://github.com/jade-cheng/ohana/wiki/Population-or-ancestry-specific-selection-scan">https://github.com/jade-cheng/ohana/wiki/Population-or-ancestry-specific-selection-scan</a>).</p> <p><code>selscan_50_k8_p*.txt.gz</code>&nbsp;- raw output of Ohana selscan (see <a href="https://github.com/jade-cheng/ohana">https://github.com/jade-cheng/ohana</a>)</p> <p><code>selscan_res.txt.gz</code> - Ohana selection scan results. These results have been filtered to exclude SVs that have low genotyping rates (&lt;50% of samples), violate Hardy-Weinberg equilibrium expectations (excess of heterozygotes) in more than half of populations, or have extreme global log likelihood estimate (LLE) values. Description of columns:</p> <ul> <li>ID: SV ID</li> <li>#CHROM: SV chromosome</li> <li>POS: SV start position</li> <li>SVLEN: SV length (negative for deletions)</li> <li>step: number of steps needed to interpolate between genome-wide and selection hypothesis models</li> <li>lle_ratio: likelihood ratio statistic (LRS) of the genome-wide vs. selection hypothesis model</li> <li>global-lle: log likelihood of the genome-wide model</li> <li>local-lle: log likelihood of the selection hypothesis model</li> <li>f-pop0: inferred allele frequency in ancestry component 0</li> <li>f-pop1: inferred allele frequency in ancestry component 1</li> <li>f-pop2: inferred allele frequency in ancestry component 2</li> <li>f-pop3: inferred allele frequency in ancestry component 3</li> <li>f-pop4: inferred allele frequency in ancestry component 4</li> <li>f-pop5: inferred allele frequency in ancestry component 5</li> <li>f-pop6: inferred allele frequency in ancestry component 6</li> <li>f-pop7: inferred allele frequency in ancestry component 7</li> <li>ancestry_component: ancestry component tested by the selection hypothesis model. Note that we have added 1 to the ancestry component numbers to match the terminology used in paper (which orders the components from 1-8 rather than 0-7 for interpretability)</li> <li>snp_perc: SV&#39;s percentile in the LRS distribution for frequency-matched SNPs</li> <li>p_nominal: nominal p-value calculated from the likelihood ratio</li> <li>p_adj: adjusted p-value calculated from the likelihood ratio</li> </ul> <p>&nbsp;</p>