Glossary

Helpful terms

  • Binary Alignment Map (BAM): A compressed, machine-readable file format used in bioinformatics to store DNA or RNA sequencing reads aligned to a reference genome. It is the binary, highly compressed equivalent of a SAM (Sequence Alignment/Map) text file, allowing for drastically smaller file sizes and faster data processing.

  • Deletion: In genetics, a deletion is a mutation where a section of DNA is lost or removed during replication. It can range from the loss of a single nucleotide base to an entire piece of a chromosome, severely altering genetic code and protein function.

  • Dried Urine Test for Comprehensive Hormones (DUTCH test): An at-home hormone panel to collect dried urine samples on filter strips over 24 hours to measure sex hormones, stress hormones (cortisol), and their metabolites.

  • Integrative Genomics Viewer (IGV): a high-performance, easy-to-use, interactive tool for the visual exploration of genomic data. Read more and download.

  • PharmCAT (Pharmacogenomics Clinical Annotation Tool): A bioinformatics tool that analyzes genetic variants to predict drug response and tailor medical treatment to an individual patient’s genetic profile.

  • Post Finasteride Syndrome (PFS): A condition describing persistent sexual, mental, and physical side effects that continue long after stopping finasteride (Propecia or Proscar). Finasteride is widely used to treat hair loss and enlarged prostates. While most users tolerate the drug well, a small subset of individuals report debilitating, long-lasting symptoms.

  • Post SSRI Syndrome (PSSD): A condition where sexual side effects (like genital numbness, loss of libido, and erectile dysfunction) persist long after stopping SSRIs. Though the exact cause is unknown, these symptoms can significantly impact quality of life and relationships.

  • Sequence Alignment Map (SAM): a standard, tab-delimited text format used in bioinformatics to store biological sequence data—like DNA or RNA reads—that have been mapped to a reference sequence. It is the universal language for processing genome sequencing data.

  • Variant Call File (VCF): A standard text file used in bioinformatics to store DNA sequence variations. Instead of writing out an entire genome, it only lists where an individual's DNA differs from a standard reference genome.

  • War Cat: A tool to predict pharmacogenomic reactions. Read more.

  • War Powers: A tool to check for genetic duplications and deletions. Read more.