Genetics in the art and art in genetics.

"Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis.

Automated alignment and nomenclature for consistent treatment of polymorphisms in the human mitochondrial DNA control region.

Naming mtDNA sequences by listing only those sites that differ from a reference sequence is the standard practice for describing the observed variations. Consistency in nomenclature is desirable so that all sequences in a database that are concordant with an evidentiary sequence will be found for estimating the rarity of that profile. The operational alignment and nomenclature rules, i.e., "Wilson Rules," suggested for this purpose do not always guarantee a single consistent sequence description for all observed polymorphisms. In this work, the operational alignment/nomenclature rules were reconfigured to better reflect traditional user preferences. The rules for selecting alignments are described. In addition, to avoid human error and to more efficiently name mtDNA sequence variants, a computer-facilitated method of aligning mtDNA sample sequences with a reference sequence was developed. There were 33 differences between these hierarchical rules and the data in SWGDAM, which translates into a 99.92% consistency between the new rules and the manual historical nomenclature approach. The data support the reliability of the current SWGDAM database. As the few discrepancies were changed in favor of the new hierarchical rules, the quality of the SWGDAM database is further improved.

Comparison of mitotyper rules and phylogenetic-based mtDNA nomenclature systems.

A consistent nomenclature scheme is necessary to characterize a forensic mitochondrial DNA (mtDNA) haplotype. A standard nomenclature, called the Mitotyper Rules™, has been developed that applies typing rules in a hierarchical manner reflecting the forensic practitioner's nomenclature preferences. In this work, an empirical comparison between the revised hierarchical nomenclature rules and the phylogenetic approach to mtDNA type description has been conducted on 5173 samples from the phylogenetically typed European Mitochondrial DNA Population database (EMPOP) to identify the degree and significance of any differences. The comparison of the original EMPOP types and the results of retyping these sequences using the Mitotyper Rules demonstrates a high degree of concordance between the two alignment schemes. Differences in types resulted mainly because the Mitotyper Rules selected an alignment with the fewest number of differences compared with the rCRS. In addition, several identical regions were described in more than one way in the EMPOP dataset, demonstrating a limitation of a solely phylogenetic approach in that it may not consistently type nonhaplogroup-specific sites. Using a rule-based approach, commonly occurring as well as private variants are subjected to the same rules for naming, which is particularly advantageous when typing partial sequence data.