Human Genome Variation Research Group
DNA might be a source of information of great practical importance. Since the mid eighties of the last century, the analysis of DNA variability has been used to identify humans, which created the unprecedented reliablity in forensic identification testing. The simple identification technologies and markers currently used in forensic genetics provide strong and reliable evidence in criminal cases and kinship analyses. The latest advances in DNA sequencing technologies combined with the significant development of machine learning methods help to better understand the significance of human genetic variability. We have been successfully conducting research of DNA variation and contributed to the development of new methods and tools for forensic genetics. We are particularly interested in DNA-based prediction of physical appearance and age. We believe that in the future, genomic predictive methods will allow direct identification of an unknown person by analyzing DNA traces. Knowledge about prediction of physical phenotypic variation can be useful in anthropological research, including human evolution. The HGVR group is a part of Malopolska Centre of Biotechnology at Jagiellonian University.
Wojciech Branicki
Wojciech Branicki is a professor and the HGVR group leader. His main area of interest is DNA-based prediction of appearance traits and age. He contributed to the development of the very popular HIrisPlex system and its updated version HIrisPlex-S that enables simultaneous prediction of eye, hair and skin colour. Wojciech was also involved in a joint study on epigenetic age markers that led to the development of 5 CpGs forensic system for age prediction. He is a forensic DNA expert at Central Forensic Laboratory of the Police in Warsaw. Wojciech is a member of International Society for Forensic Genetics and chairman of the Polish Speaking Working Group in ISFG.
Ewelina Pośpiech
Ewelina Pośpiech is a postdoctoral researcher in HGVR group. She is interested in developing new methods in the field of forensic genetics and focuses on predictive DNA analysis. Currently, she works on prediction methods for various externally visible characteristics including head hair shape and hair loss and is investigating a link between epigenetic age and progressive traits. She is passionate about extending the use of massive parallel sequencing technology (MPS) in forensic genetics and is involved in large projects aiming at implementing MPS in forensic DNA phenotyping. Ewelina is in charge of developing age prediction method in the H2020 project VISAGE. In 2014 the Japan Society of Human Genetics awarded her a Young Scientist Award and in 2017 she was granted an award for outstanding young scientists by the Foundation for Polish Science.
Agata Jarosz
Agata Jarosz is a biotechnologist working in the HGVR group as a lab technician. Before joining the group she was employed at Cologne Center for Genomics (Germany) where she became proficient in the newest next-generation sequencing methods used in research and diagnostics. At present, Agata is responsible mainly for providing services within MCB’s Core Facility for Genomics.
Aleksandra Pisarek
Ola Pisarek is a technician responsible for the tasks in the H2020 project VISAGE. In 2017 she obtained master’s degree in biochemistry at the Faculty of Biochemistry, Biophysics and Biotechnology of the Jagiellonian University. She is interested in DNA methylation analysis and epigenetic age prediction.
Danuta Piniewska-Róg
Danka Piniewska-Róg (PhD) is a volunteer in HGVR group involved in the H2020 project VISAGE. She is a forensic expert with specialization in forensic genetics and during the application for specialization in medical genetics. Her main place of work is the Chair and Department of Legal Medicine of the Medical College in Krakow. She is interested in various fields of human genetics.
Monika Zazula
Monika Zazula (PhD) is a volunteer in HGVR group. She is an experienced geneticist and bioethicist.
Magdalena Kukla-Bartoszek
Magda is a PhD student in HGVR group. Her main area of interest is the genetics of pigmentation traits. She is involved in research study on development of new markers and methods for prediction of eye, hair, skin colour and other pigmentation features including freckles.
Kinga Herda
Kinga is a MSc student in HGVR group. She is interested in the potential of microbiome analysis in forensic genetics.
Rezvan Noroozi
Rezvan is a PhD student in HGVR group. She is interested in the investigation of the underlying genetic basis of disease. She is involved in the research project to explore epigenetic markers for aging and translate the obtained data into applicable predictive models of age prediction.
Tomasz Gromowski
Tomek is a research assistant in HGVR group. Former resident of the city of Szczecin where he graduated from the West Pomeranian University of Technology with MSc degree. Completed his PhD in Pomeranian Medical University. Currently a citizen of Krakow and an employee of Human Genome Variation Research Group & Genomics Centre. His areas of interest include genetic research, cancer genetic, epigenetics, microbiome.
Adrianna Klajmon
Adrianna Klajmon is a biologist working in the HGVR group as a lab technician. She is a student of Forensic Anthropology in Postdiploma Medical Training Centre. Her areas of interest include forensic medicine, cancer genetics and molecular diagnostics. She is responsible mainly for providing services within MCB’s Core Facility for Genomics.
HGVR group is currently involved in three research projects:
- VISAGE funded by EU: UE H2020 no 740580; Call: H2020-SEC-2016-2017 (SECURITY) – PI: Wojciech Branicki (5 000 000 €, JU: 231 750 €)
- EPIGENOME founded by NCBiR in Poland: NCBiR DOB-BIO10/06/01/2019 – PI: Ewelina Pośpiech (9 832 450 PLN, JU: 4 255 625 PLN)
- MICROBIOME founded by NCBiR in Poland: NCBiR DOB-BIO10/03/01/2019 – PI: Wojciech Branicki; (11 210 835 PLN, JU: 3 382 500 PLN)
The group cooperates a lot locally and internationally. The main collaborator is the Central Forensic Laboratory of the Police in Warsaw.
List of our latest publications
HIrisPlex-S system for eye, hair, and skin color prediction from DNA: Massively parallel sequencing solutions for two common forensically used platforms. Breslin K, Wills B, Ralf A, Ventayol Garcia M, Kukla-Bartoszek M, Pośpiech E, Freire-Aradas A, Xavier C, Ingold S, de La Puente M, van der Gaag KJ, Herrick N, Haas C, Parson W, Phillips C, Sijen T, Branicki W, Walsh S, Kayser M; Forensic Sci Int Genet. 2019 Nov;43:102152. doi: 10.1016/j.fsigen.2019.102152.
DNA-based predictive models for the presence of freckles. Kukla-Bartoszek M, Pośpiech E, Woźniak A, Boroń M, Karłowska-Pik J, Teisseyre P, Zubańska M, Bronikowska A, Grzybowski T, Płoski R, Spólnicka M, Branicki W; Forensic Sci Int Genet. 2019 Sep;42:252-259. doi: 10.1016/j.fsigen.2019.07.012.
Oxidative gastric mucosal damage induced by ischemia/reperfusion and the mechanisms of its prevention by carbon monoxide-releasing tricarbonyldichlororuthenium (II) dimer. Magierowska K, Korbut E, Hubalewska-Mazgaj M, Surmiak M, Chmura A, Bakalarz D, Buszewicz G, Wójcik D, Śliwowski Z, Ginter G, Gromowski T, Kwiecień S, Brzozowski T, Magierowski M; Free Radic Biol Med. 2019 Dec;145:198-208. doi: 10.1016/j.freeradbiomed.2019.09.032.
Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA. Pośpiech E, Chen Y, Kukla-Bartoszek M, Breslin K, Aliferi A, Andersen JD, Ballard D, Chaitanya L, Freire-Aradas A, van der Gaag KJ, Girón-Santamaría L, Gross TE, Gysi M, Huber G, Mosquera-Miguel A, Muralidharan C, Skowron M, Carracedo Á, Haas C, Morling N, Parson W, Phillips C, Schneider PM, Sijen T, Syndercombe-Court D, Vennemann M, Wu S, Xu S, Jin L, Wang S, Zhu G, Martin NG, Medland SE, Branicki W, Walsh S, Liu F, Kayser M; EUROFORGEN-NoE Consortium. Forensic Sci Int Genet. 2018 Nov;37:241-251. doi: 10.1016/j.fsigen.2018.08.017.
Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians. Pośpiech E, Lee SD, Kukla-Bartoszek M, Karłowska-Pik J, Woźniak A, Boroń M, Zubańska M, Bronikowska A, Hong SR, Lee JH, Wojas-Pelc A, Lee HY, Spólnicka M, Branicki W. J Dermatol Sci. 2018 Sep;91(3):331-334. doi: 10.1016/j.jdermsci.2018.06.003.
Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system. Kukla-Bartoszek M, Pośpiech E, Spólnicka M, Karłowska-Pik J, Strapagiel D, Żądzińska E, Rosset I, Sobalska-Kwapis M, Słomka M, Walsh S, Kayser M, Sitek A, Branicki W. Forensic Sci Int Genet. 2018 Sep;36:26-33. doi: 10.1016/j.fsigen.2018.06.007.
Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer's Disease. Wezyk M, Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Ilkowski J, Styczyńska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Skrzypczak M, Ginalski K, Kabza M, Makałowska I, Barcikowska-Kotowicz M, Branicki W, Żekanowski C.
Oxid Med Cell Longev. 2018 Apr 4;2018:6918797. doi: 10.1155/2018/6918797.
The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation. Chaitanya L, Breslin K, Zuñiga S, Wirken L, Pośpiech E, Kukla-Bartoszek M, Sijen T, Knijff P, Liu F, Branicki W, Kayser M, Walsh S. Forensic Sci Int Genet. 2018 Jul;35:123-135. doi: 10.1016/j.fsigen.2018.04.004.
DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease. Spólnicka M, Zbieć-Piekarska R, Karp M, Machnicki MM, Własiuk P, Makowska Ż, Pięta A, Gambin T, Gasperowicz P, Branicki W, Giannopoulos K, Stokłosa T, Płoski R. Forensic Sci Int Genet. 2018 May;34:e15-e17. doi: 10.1016/j.fsigen.2018.02.004.
Modified aging of elite athletes revealed by analysis of epigenetic age markers. Spólnicka M, Pośpiech E, Adamczyk JG, Freire-Aradas A, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Lareu MV, Phillips C, Płoski R, Żekanowski C, Branicki W. Aging (Albany NY). 2018 Feb 15;10(2):241-252. doi: 10.18632/aging.101385.
Body fluid identification using a targeted mRNA massively parallel sequencing approach - results of a EUROFORGEN/EDNAP collaborative exercise. Ingold S, Dørum G, Hanson E, Berti A, Branicki W, Brito P, Elsmore P, Gettings KB, Giangasparo F, Gross TE, Hansen S, Hanssen EN, Kampmann ML, Kayser M, Laurent FX, Morling N, Mosquera-Miguel A, Parson W, Phillips C, Porto MJ, Pośpiech E, Roeder AD, Schneider PM, Schulze Johann K, Steffen CR, Syndercombe-Court D, Trautmann M, van den Berge M, van der Gaag KJ, Vannier J, Verdoliva V, Vidaki A, Xavier C, Ballantyne J, Haas C. Forensic Sci Int Genet. 2018 May;34:105-115. doi: 10.1016/j.fsigen.2018.01.002.
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair. Liu F, Chen Y, Zhu G, Hysi PG, Wu S, Adhikari K, Breslin K, Pospiech E, Hamer MA, Peng F, Muralidharan C, Acuna-Alonzo V, Canizales-Quinteros S, Bedoya G, Gallo C, Poletti G, Rothhammer F, Bortolini MC, Gonzalez-Jose R, Zeng C, Xu S, Jin L, Uitterlinden AG, Ikram MA, van Duijn CM, Nijsten T, Walsh S, Branicki W, Wang S, Ruiz-Linares A, Spector TD, Martin NG, Medland SE, Kayser M. Hum Mol Genet. 2018 Feb 1;27(3):559-575. doi: 10.1093/hmg/ddx416.
DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups. Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Karłowska-Pik J, Ziemkiewicz B, Wężyk M, Gasperowicz P, Bednarczuk T, Barcikowska M, Żekanowski C, Płoski R, Branicki W. Int J Legal Med. 2018 Jan;132(1):1-11. doi: 10.1007/s00414-017-1636-0.
Global skin colour prediction from DNA. Walsh S, Chaitanya L, Breslin K, Muralidharan C, Bronikowska A, Pospiech E, Koller J, Kovatsi L, Wollstein A, Branicki W, Liu F, Kayser M.
Hum Genet. 2017 Jul;136(7):847-863. doi: 10.1007/s00439-017-1808-5. Erratum in: Hum Genet. 2017 Jul;136(7):865-866.