Arnhard,K.; Pitterl,F.; Sperner-Unterweger,B.; Fuchs,D.; Koal,T.; Oberacher,H.; Tryptophan (TRP) catabolism via the kynurenine pathway is considered to represent a major link between inflammation and various diseases, including neurodegenerative disorders, depression, schizophrenia, multiple sclerosis, cardiovascular disease, and cancer. The kynurenine pathway and levels of TRP and its metabolites kynurenine (KYN), kynurenic acid (KYNA) and quinolinic acid (QUIN) are well regulated under physiological conditions but may be altered as part of the activated immune response. [Read More]

Parson,W.; Forensic genetics developed from protein-based techniques a quarter of a century ago and became famous as “DNA fingerprinting,” this being based on restriction fragment length polymorphisms (RFLPs) of high-molecular-weight DNA. The amplification of much smaller short tandem repeat (STR) sequences using the polymerase chain reaction soon replaced RFLP analysis and advanced to become the gold standard in genetic identification. Meanwhile, STR multiplexes have been developed and made commercially available which simultaneously amplify up to 30 STR loci from as little as 15 cells or fewer. [Read More]

Ingold,S.; Dorum,G.; Hanson,E.; Berti,A.; Branicki,W.; Brito,P.; Elsmore,P.; Gettings,K.B.; Giangasparo,F.; Gross,T.E.; Hansen,S.; Hanssen,E.N.; Kampmann,M.L.; Kayser,M.; Laurent,F.X.; Morling,N.; Mosquera-Miguel,A.; Parson,W.; Phillips,C.; Porto,M.J.; Pospiech,E.; Roeder,A.D.; Schneider,P.M.; SchulzeJohann,K.; Steffen,C.R.; Syndercombe-Court,D.; Trautmann,M.; vandenBerge,M.; vanderGaag,K.J.; Vannier,J.; Verdoliva,V.; Vidaki,A.; Xavier,C.; Ballantyne,J.; Haas,C.; In a previous study we presented an assay for targeted mRNA sequencing for the identification of human body fluids, optimised for the Illumina MiSeq/FGx MPS platform. This assay, together with an additional in-house designed assay for the Ion Torrent PGM/S5 platform, was the basis for a collaborative exercise within 17 EUROFORGEN and EDNAP laboratories, in order to test the efficacy of targeted mRNA sequencing to identify body fluids. [Read More]

Alonso,A.; Barrio,P.A.; Müller,P.; Köcher,S.; Berger,B.; Martin,P.; Bodner,M.; Willuweit,S.; Parson,W.; Roewer,L.; Budowle,B.; The current state of validation and implementation strategies of massively parallel sequencing (MPS) technology for the analysis of STR markers for forensic genetics use is described, covering the topics of the current catalog of commercial MPS-STR panels, leading MPS-platforms, and MPS-STR data analysis tools. In addition, the developmental and internal validation studies carried out to date to evaluate reliability, sensitivity, mixture analysis, concordance, and the ability to analyze challenged samples are summarized. [Read More]

Simao,F.; Ferreira,A.P.; deCarvalho,E.F.; Parson,W.; Gusmao,L.; The genetic composition of the Brazilian population was shaped by interethnic admixture between autochthonous Native Americans, Europeans settlers and African slaves. This structure, characteristic of most American populations, implies the need for large population forensic databases to capture the high diversity that is usually associated with admixed populations. In the present work, we sequenced the control region of mitochondrial DNA from 205 non-related individuals living in the Rio de Janeiro metropolitan region. [Read More]