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rCRS (Revised Cambridge Reference Sequence)

Definition

The standard reference sequence for the human mitochondrial genome (NC_012920.1, 16,569 bp), used as the coordinate system for reporting all forensic mtDNA results. Sequenced by Sanger method (Andrews et al., 1999); differences between a sample and the rCRS are reported as substitutions, insertions, or deletions at numbered positions.

Accession number
NC_012920.1
Length
16,569 base pairs
Method used
Sanger sequencing
Publication
Andrews et al., 1999

Common questions

Why does forensic mtDNA reporting need a fixed reference sequence at all?+

Mitochondrial genomes vary between people, so a report needs one common numbering scheme to describe a sample's variants as positions and changes relative to it, letting laboratories compare results consistently across cases and databases.

Does everyone match the rCRS exactly at the mitochondrial positions that matter?+

No. Most people carry several differences from the rCRS scattered through their mitochondrial genome; these differences, not identity with the reference, are what a forensic mtDNA comparison actually evaluates.

Related terms

2',3'-Dideoxynucleotide Triphosphate (ddNTP)
A nucleotide analogue lacking the 3'-hydroxyl group present in normal dNTPs. When incorporated by DNA polymerase into a growing chain, it prevents...
Big Dye Terminator (BDT) V3.1
Applied Biosystems' (now Thermo Fisher Scientific's) commercial cycle sequencing kit using four spectrally distinct dichlororhodamine dyes coupled to the four ddNTPs. The...
Cycle Sequencing
A Sanger sequencing format using a thermostable DNA polymerase and repeated denaturation-annealing-extension cycles (typically 25-35 cycles). Produces exponentially more termination products from...
EMPOP (ENBISI Mitochondrial Population Database)
The ENFSI-curated reference database of forensic-grade mtDNA haplotypes used to estimate the frequency of a given control-region profile in a specified population....
Phred Quality Score
A logarithmic estimate of base-calling error probability (Phred Q = -10 log10 P). Q20 = 1% error rate; Q30 = 0.1% error...
Sequencing-by-Synthesis (SBS)
The Illumina detection paradigm: reversibly fluorescent 3'-blocked nucleotides are incorporated one cycle at a time into clonally amplified clusters on a flow...

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