Release 13 is online, N=48,572

We have updated the database with 6,132 new haplotypes from 128 different origins.

New block deletion at 495-503 impact SAM2 alignment rules

We came across a novel block deletion of 9 nucleotides preceding the AC-repeat region in HVS-III. This changes the earlier SAM2 alignment in that region (see figure below) and leads to a phylogenetically more plausible alignment.

Release 12 is online, N=42839

We have updated the database with 8,227 new haplotypes from 26 different countries (including 5 updates from CR to full mitogenome).

Welcome to EMPOP 4

EMPOP now uses the new developed query engine SAM2 Huber et al 2018 that is based on SAM Röck et al 2011


Overview of EMPOP 4 and SAM 2

  • phylogenetic alignment of a mitotype in contrast to the input alignment. The phylogenetic principle follows the rules developed in Bandelt and Parson 2008 that are meanwhile generally accepted in the forensic community (SWGDAM 2013 , ISFG 2014). Thus alignment and notation of mitotypes can be standardized within the forensic genetic community and also in other fields of research.
  • estimated haplogroup status based on Phylotree nomenclature van Oven and Kayser 2009. Details are provided in Huber et al 2018
  • Updated alignment/nomenclature conventions for instable (length variant) regions 50-70, 310-316, 455-460, 961-966, 8276-8279, 16180-16193, and 16258-16262
  • catalogue of 28 block indels that are considered as single variant/difference to comply with the phylogenetic interpretation of mitotypes
  • updated catalogue of length variant regions that can be excluded from the database search
  • search function for neighbours by phylogenetic costs

Refinement of Haplogroup Assignment

The tolerance level of EMMA was downsized from 0.3 to 0.1 to allow for a finer haplogroup estimation of mtDNA haplotypes. Extensive testing on a data set comprising 86,048 haplotypes suggested that this reduction would be beneficial for forensically relevant haplogrouing. Especially haplotypes previously assigned to haplogroups H, L3 and M benefit from a more accurate classification.