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Genomic Glossary Allele* Alternative form of a genetic locus; a single allele for each locus is inherited from each parent (e.g., at a locus for eye color the allele might result in blue or brown eyes). Base Pair (bp)* Two nitrogenous bases (adenine and thymine or guanine and cytosine) held together by weak bonds. Two strands of DNA are held together in the shape of a double helix by the bonds between base pairs. Bioinformatics* The science of managing and analyzing biological data using advanced computing techniques. Especially important in analyzing genomic research data. Candidate Gene* A gene located in a chromosome region suspected of being involved in a disease. Compound Heterozygous A pattern of autosomal recessive inheritance in which the child receives two different pathogenic mutations in the same gene, typically one from each unaffected parent; this differs from homozygous mutations in which the child receives two copies of an identical pathogenic mutation, one from each parent. Epigenome* Set of chemical compounds that modify, or mark, the genome in a way that tells it what to do, where to do it, and when to do it. The marks, which are not part of the DNA itself, can be passed on from cell to cell as cells divide, and from one generation to the next. Whole-Exome Sequencing (WES) Determination of the order of nucleotides (base sequences) in all of the proteincoding regions of the genome. Compare to Whole-Genome Sequencing (WGS), which includes the Exome and all intronic and intergenic regions. Exon* The protein-coding DNA sequence of a gene. Gene* The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule). Next-Generation Sequencing A high-throughput (fast) method of sequencing that involves randomly sequenced pieces of the genome, with no foreknowledge of where the piece originally came from. This can be contrasted with “directed” strategies in which pieces of DNA from known chromosomal locations are sequenced. Incidental Finding Genomic variants that are unexpected or unrelated to a patient’s symptoms; an example is the presence of breast cancer predisposition variant in a child tested for the purpose of identifying the etiology of epilepsy. Indel Small insertion or deletion of one or more nucleotides, usually detected by gene sequencing methods. This is in comparison to larger (hundreds to thousands of base pair) insertions and deletions which are conventionally called Copy Number Variants (CNVs), usually detected by microarray methods. Intron* DNA sequence that interrupts the proteincoding sequence of a gene; an intron is transcribed into RNA but is cut out of the message before it is translated into protein. Monogenic Disorder A disorder caused by mutation of a single gene. Multiplexing* A laboratory approach that performs multiple sets of reactions in parallel (simultaneously); greatly increasing speed and throughput. Nucleotide* A subunit of DNA or RNA consisting of a nitrogenous base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA and ribose in RNA). Thousands of nucleotides are linked to form a DNA or RNA molecule. Omics* Collective term for a range of new highthroughput biological research methods (e.g., transcriptomics, proteomics, and metabolomics) that systematically investigate entire networks of genes, proteins, and metabolites within cells. Pharmacogenomics* The study of the interaction of an individual’s genetic makeup and response to a drug. Single Nucleotide Polymorphism (SNP)* DNA sequence variations that occur when a single nucleotide (A, T, C, or G) in the genome sequence is altered. * from the Human Genome Project Glossary (http://web.ornl.gov/sci/techresources/Human_Genome/glossary.shtml) 02/14