6 posts
A SNP is a single base position in the genome where people carry different letters. This is how those positions get called from sequencing data, filtered, annotated, and read without over-reading them.
A working guide to going from raw whole-genome reads to a filtered, annotated set of single-nucleotide variants you can query, including the tools, flags, quality checks, and the places this pipeline quietly fails.
A working pipeline for analyzing the SNPs in your own whole-genome sequence: alignment, variant calling with DeepVariant, QC thresholds that catch real failures, annotation, and the queries worth running first.
A practical workflow for going from an rsID to a genotype you can trust. Covers resolving coordinates, querying your VCF and checking the reads.
A working pipeline for taking a personal WGS VCF into R: GDS conversion, quality metrics, ancestry PCA against 1000 Genomes, variant annotation, and polygenic score computation, with the failure modes that silently corrupt each step.
A working guide to calling, normalizing, annotating, and querying SNPs from your own sequencing or array data, with the specific tools, flags, and failure modes that matter.