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See minor allele frequency
A next-generation DNA sequencing technology that allows millions or billions of base-pairs of DNA or RNA to be sequenced simultaneously. Also known as next-generation sequencing (NGS), or high-throughput sequencing.
A unit of length used to describe DNA fragments of 1 million nucleotides. 1Mb is approximately equal to 1cM.
Patterns of inheritance originally described by Gregor Mendel. Such modes of inheritance include, autosomal dominant, autosomal recessive, and sex-linked (X-linked).
The RNA template for protein synthesis.
The frequency of the rare allele at a given locus. Variants with MAF >5% are typically considered common variants. The frequency can be derived from a number of public variant databases such as dbSNP, 1000 Genomes Project, or the NHLBI Exome Variant Server (EVS).
A single base pair variant that results in a different amino acid at that position.
Mitochondria are inherited from the ova as sperm do not contain mitochondria. Mitochondria contain their own genome which is maternally inherited. Alterations in the mitochondrial genome can result in disease.
Twins developed from a single fertilized egg.
See massively parallel sequencing
See messenger RNA
See mitochondrial inheritance
The application of nucleotide barcodes followed by subsequent pooling of multiple DNA samples which are sequenced as a single sample to increase throughput, take advantage of sequencer output, and decrease cost.
A change in DNA sequence which may cause a change in trait or health. (See Germline mutation and somatic mutation)
See monozygotic twins