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What Genome reads.
The biology behind Genome: explanations of genes, variants and analysis methods, with sources for further reading.
60 articles8 Areassources cited
New to genomics? Start here.
Learn the basics, identify your data type and understand reference coordinates.
Areas
Foundations18 articlesGenetics from the ground up: gene, DNA, inheritance and how letters become traits.HLA & immunogenetics13 articlesHLA typing, KIR and selected disease associations in the context of immunogenetics.Microarray & SNPs18 articlesUnderstand SNPs, rsIDs and the limits of selected marker data.Pharmacogenomics1 articlesHow gene variants can influence drug metabolism.Disease genomics2 articlesDisease associations and polygenic scores, with their limitations.Structure & repeats3 articlesCopy number, structural variants and repeat expansions.Mitochondrial & ancestry3 articlesMitochondrial variants and haplogroups from maternal or paternal lines.Viral traces & QC2 articlesViral sequence traces and technical quality checks on 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