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What Genome reads.

The biology behind Genome: explanations of genes, variants and analysis methods, with sources for further reading.

60 articles 8 Areas peer-reviewed sources

New to genomics? Start here.

Learn the basics, identify your data type and understand reference coordinates.

  1. DNA: bases and double helix
  2. WGS, SNP test and WES
  3. Reference genome and builds

Areas

Foundations 18 articles Genetics from the ground up: gene, DNA, inheritance and how letters become traits. HLA & immunogenetics 13 articles HLA typing, KIR and the HLA-driven autoimmune diseases. Microarray & SNPs 18 articles Understanding rsIDs and well-known single markers, gene by gene. Pharmacogenomics 1 articles How gene variants change drug metabolism. Disease genomics 2 articles Single markers and polygenic scores for disease risk. Structure & repeats 3 articles Copy number, structural variants and repeat expansions. Mitochondrial & ancestry 3 articles Mitochondrial variants and maternal as well as paternal ancestry. Viral traces & QC 2 articles Viral sequence traces and quality control of the data.

All articles A-Z

Allele, genotype and phenotypeAnkylosing spondylitisAntioxidant enzymesApoEAutoimmune thyroid (Hashimoto, Graves)Celiac diseaseChromosomes and karyotypeCOMTContamination checkDisease associationsDNA: bases and double helixDominant and recessiveEBV sequence tracesEpigeneticsFrom gene to proteinFUT2 (secretor status)GC (vitamin D binding protein)Gene structure: exon, intron, promoterGWAS and polygenic scoresHFE (haemochromatosis)HLA and autoimmunityHLA typingInheritance patternsKIR genesKIR-HLA ligand contextLinkage and haplotypeLp(a) and KIV-2Lupus (SLE)mtDNA haplogroupsmtDNA variantsMTHFRMultiple sclerosisMutation and variantNarcolepsyPenetrance and expressivityPharmacogeneticsPolygenic scoresPsoriasisReading a genome reportReference genome and buildsRepeat expansionsRheumatoid arthritisrsIDs, microarray and SNP lookupStructural variantsTelomeresThe genetic codeThrombophilia (factor V Leiden, prothrombin)Type 1 diabetesVDR (vitamin D receptor)Vitamin A (BCMO1)Vitamin B12 (FUT2, CUBN, TCN2)Vitamin B6 (ALPL)Vitamin B9 (folate)Vitamin C (SLC23A1)Vitamin D (synthesis, transport, receptor)Vitamin E (CYP4F2, SCARB1)Vitamin K (VKORC1)WGS, SNP test and WESWhat is a gene?Y haplogroup