Group leader

 

 

 

 

 

 

 

 

 

 

 

Professor Wojciech Branicki
T: +4812 664 6111 
E: wojciech.branicki@uj.edu.pl

Team members

 

 

• Wojciech Branicki, Prof. – Group leader - wojciech.branicki@uj.edu.pl – T: 12664 6111
• Ewelina Pośpiech, PostDoc – Assistant Professor - ewelina.pospiech@uj.edu.pl - T. 12664 6113
• Agata Jarosz, MSc – Manager of Genomics Core Facility - agata.1.jarosz@uj.edu.pl - T. 12664 6113
• Tomasz Gromowski, PhD – Research Assistant – tomasz.gromowski@uj.edu.pl – T. 12664 6113

• Aleksandra Pisarek, MSc – technician - aleksandra.pisarek@uj.edu.pl
• Magdalena Kukla-Bartoszek, MSc – technician, PhD student - magda.kukla@uj.edu.pl
• Adrianna Klajmon, MSc – technician – adrianna.klajmon@student.uj.edu.pl

• Rezvan Noroozi, MSc  – PhD student – rezvan.noroozi@doctoral.uj.edu.pl
•  Kinga Herda – MSc student - kinga.herda@student.uj.edu.pl

• Danuta Piniewska-Róg, PhD – volunteer - danuta.piniewska@uj.edu.pl
• Monika Zazula, PhD – volunteer

Summary

The HGVR Group focuses on genetic and epigenetic human genome variation defining phenotypic features and the influence of biological aging on phenotype progression. Development of high-throughput DNA sequencing technologies has opened up the possibility of studying human genome variation including DNA methylation on an enormous scale. Consequently, it enabled development of complex prediction tools based on analysis of large number of markers. The generated DNA variation data are used in mathematical modelling aimed at accurate risk assessment, prediction and prognosis in medical genetics, and predictive DNA analysis in forensics. The HGVR Group provides analyses that can be used to trace unknown individuals by DNA-based prediction of biogeographic ancestry, appearance traits and age.

Recently, HGVR Group’s scientific activity extends to metagenomics. The current research aims at developing new tools for identification of microbial patterns characteristic for different geolocations. Systems for predicting the origin of an unknown sample that include genetic test and computer program consisting of database of DNA sequences and mathematical algorithms for its efficient search are currently under development within one of the consortium project with the participation of the HGVR Group.

Future plans

The HGVR Group plans to continue working on predictive DNA analysis in forensics and anthropology by developing more accurate prediction models that shall combine information about ancestry, appearance and age. The group will extend the research on the use of microbiome for intelligence purposes and explore new areas of the influence of human genome variation of phenotypic features. 

Grants

Genomics Core Facility

The HGVR Group offers services in genomics, transcriptomics and forensic genetics. Please, see the offer of the core facility  – Genomics Core Facility.

Selected publications

• 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 K.J., Herrick N., Haas C., Parson W., Phillips C., Sijen T., Branicki W., Walsh S. , Kayser M. HIrisPlex-S system for eye, hair, and skin color prediction from DNA: Massively parallel sequencing solutions for two common forensically used platforms. Forensic Sci Int Genet. 2019 43:102152.
• 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. DNA-based predictive models for the presence of freckles. Forensic Sci Int Genet. 2019 42:252-259.
• Pośpiech E., Chen Y., Kukla-Bartoszek M., Breslin K., Aliferi A., Andersen J.D., Ballard D., Chaitanya L., Freire-Aradas A., van der Gaag K.J., Giron-Santamaria L., Gross T.E., Gysi M., Huber G., Mosquera-Miguel A., Muralidharan C., Skowron M., Carracedo A., Haas C., Morling N., Parson W., Phillips C., Schneider P.M., Sijen T., Syndercombe-Court D., Vennemann M., Wu S., Xu S., Jin L., Wang S., Zhu G., Martin N.G., Medland S.E., EUROFORGEN NoE Consortium, Branicki W., Walsh S., Liu F., Kayser M. Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA. Forensic Sci Int Genet. 2018 DOI: 10.1016/j.fsigen.2018.08.017
• Pośpiech E., Lee S.D., Kukla-Bartoszek M., Karłowska-Pik J., Woźniak A., Boroń M., Zubańska M., Bronikowska A., Hong S.R., Lee J.H., Wojas-Pelc A., Lee H.Y., Spólnicka M., Branicki W. Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians. J Dermatol Sci. 2018 doi: 10.1016/j.jdermsci.2018.06.003.
• 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. Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system. Forensic Sci Int Genet. 2018 36:26-33.
• 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. The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation. Forensic Sci Int Genet. 2018 35:123-135.
• Spólnicka M., Pośpiech E., Adamczyk J.G., Freire-Aradas A., Pepłońska B., Zbieć-Piekarska R., Makowska Ż., Pięta A., Lareu M.V., Phillips C., Płoski R., Żekanowski C., Branicki W. Modified aging of elite athletes revealed by analysis of epigenetic age markers. Aging 10:241-252.
• 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. Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer's Disease. Oxid. Med. Cell Longev. 2018 doi: 10.1155/2018/6918797.
• Ingold S., Dørum 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., Pośpiech E., Roeder A.D., Schneider P.M., Schulze Johann K., Steffen C.R., Syndercombe-Court D., Trautmann M., van den Berge M., van der Gaag K.J., Vannier J., Verdoliva V., Vidaki A., Xavier C., Ballantyne J., Haas C. Body fluid identification using a targeted mRNA massively parallel sequencing approach – results of a EUROFORGEN/EDNAP collaborative exercise. Forensic Sci Int Genet. 2018 34:105-115
• Liu F., Chen Y., Zhu G., Hysi P.G., Wu S., Adhikari K., Breslin K., Pospiech E., Hamer M.A., Peng F., Muralidharan C., Acuna-Alonzo V., Canizales-Quinteros S., Bedoya G., Gallo C., Poletti G., Rothhammer F., Bortolini M.C., Gonzalez-Jose R., Zeng C., Xu S., Jin L., Uitterlinden A.G., Ikram M.A., van Duijn C.M., Nijsten T., Walsh S., Branicki W., Wang S., Ruiz-Linares A., Spector T.D., Martin N.G., Medland S., Kayser M. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair. Hum. Mol. Genet. 2018 27:559-575.
• Zagajewska K., Piątkowska M., Goryca K., Bałabas A., Kluska A., Paziewska A., Pośpiech E., Grabska-Liberek I., Hennig E.E. GWAS links variants in neuronal development and actin remodeling related loci with pseudoexfoliation syndrome without glaucoma. Exp Eye Res 2018 168:138-148.
• 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. DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups. Int J Legal Med. 2017 132:1-11.
• Walsh S., Chaitanya L., Breslin K., Muralidharan C., Bronikowska A., Pospiech E, Koller J, Kovatsi L, Wollstein A, Branicki W, Liu F, Kayser M. Global skin colour prediction from DNA. Hum Genet. 2017 May 12. doi: 10.1007/s00439-017-1808-5.
• Freire-Aradas A, Phillips C, Mosquera-Miguel A, Girón-Santamaría L, Gómez-Tato A, Casares de Cal M, Álvarez-Dios J, Ansede-Bermejo J, Torres-Español M, Schneider PM, Pośpiech E, Branicki W, Carracedo Á, Lareu MV. Development of a methylation marker set for forensic age estimation using analysis of public methylation data and the Agena Bioscience EpiTYPER system. Forensic Sci Int Genet. 2016, 24:65-74.
• Spólnicka M, Piekarska RZ, Jaskuła E, Basak GW, Jacewicz R, Pięta A, Makowska Ż, Jedrzejczyk M, Wierzbowska A, Pluta A, Robak T, Berent J, Branicki W, Jędrzejczak W, Lange A, Płoski R. Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation. Clin Epigenetics. 2016; 8: 93. doi: 10.1186/s13148-016-0257-7.
• Pośpiech E, Karłowska-Pik J, Ziemkiewicz B, Kukla M, Skowron M, Wojas-Pelc A, Branicki W. Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. Int J Legal Med. 2016; 130(4): 923-34. doi: 10.1007/s00414-016-1388-2.
• Walsh S, Pośpiech E, Branicki W. Hot on the Trail of Genes that Shape Our Fingerprints. Journal of Investigative Dermatology, 2016, 136: 740-742. doi: 10.1016/j.jid.2015.12.044.
• Santos C, Fondevila M, Ballard D, Banemann R, Bento AM, Børsting C, Branicki W, Brisighelli F, Burrington M, Capal T, Chaitanya L, Daniel R, Decroyer V, England R, Gettings KB, Gross TE, Haas C, Harteveld J, Hoff-Olsen P, Hoffmann A, Kayser M, Kohler P, Linacre A, Mayr-Eduardoff M, McGovern C, Morling N, O'Donnell G, Parson W, Pascali VL, Porto MJ, Roseth A, Schneider PM, Sijen T, Stenzl V, Court DS, Templeton JE, Turanska M, Vallone PM, van Oorschot RA, Zatkalikova L, Carracedo Á, Phillips C; EUROFORGEN-NoE Consortium. Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise. Forensic Sci Int Genet. 2015, 19: 56-67.
• Tagliabue E., Concetta Fargnoli M., Gandini S., Maisonneuve P., Liu F., Kayser M., Nijsten T., Han J., Kumar R., A. Gruis N., Ferrucci L., Branicki W., Dwyer T., Blizzard L., Helsing P., Autier P., García-Borrón J., A. Kanetsky P., Teresa Landi M., Little J., Newton-Bishop J., Sera F., Raimondi S. MC1R gene variants and non melanoma skin cancer: a pooled-analysis from the M-SKIP project. British Journal of Cancer, 2015, 113(2): 354-63.
• Zbieć-Piekarska R, Spólnicka M, Kupiec T, Agnieszka Parys-Proszek A, Żanetta Makowska Ż, Pałeczka A, Kucharczyk K, Płoski R, Branicki W. Development of a forensically useful age prediction method based on DNA methylation analysis. Forensic Sci Int Genet. 2015, 17: 173-179.
• Marcińska M, Pośpiech E, Abidi S, Dyrberg Andersen J, van den Berge M, Carracedo Á, Eduardoff M, Marczakiewicz-Lustig A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, The EUROFORGEN-NoE Consortium; Schneider P, Ballard D, Børsting C, Parson W, Phillips C, Branicki W. Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness. PLoS ONE 2015, 10(5): e0127852.
• Pośpiech E., Karłowska-Pik J., Marcińska M., Abidi S., Andersen JD., van den Berge M., Carracedo Á., Eduardoff M., Freire-Aradas A., Morling N., Sijen T., Skowron M., Söchtig J., Syndercombe-Court D., Weiler N., Schneider PM., Ballard D., Børsting C., Parson W., Phillips C., Branicki W., EUROFORGEN-NoE Consortium. Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans. Forensic Sci Int Genet. 2015, 19: 280-8.
• Kosiniak-Kamysz A, Marczakiewicz-Lustig A, Marcińska M, Skowron M, Wojas-Pelc A, Pośpiech E, Branicki W. Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects. Melanoma Res. 2014, 24(4): 388-96.
• Pośpiech E., Wojas-Pelc A., Walsh S., Liu F., Maeda H., Ishikawa T., Skowron M., Kayser M., Branicki W., The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. Forensic Sci Int Genet., 2014, 11: 64-72.
• Kosiniak-Kamysz A., Pośpiech E., Wojas-Pelc A., Marcińska M., Branicki W. Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma. The Journal of Dermatology, 2012, 39: 693-698. 
• Pośpiech E., Draus-Barini J., Kupiec T., Wojas-Pelc A., Branicki W. Gene-gene interactions contribute to eye colour variation in humans. Journal of Human Genetics, 2011, 56: 447-55.
• Branicki W, Liu F, van Duijn K, Draus-Barini J, Pośpiech E, Kupiec T, Wojas-Pelc A, Kayser M. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011, 129(4): 443-54.
• Bogdanowicz W, Allen M, Branicki W, Lembring M, Gajewska M, Kupiec T. Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus. Proc Natl Acad Sci U S A. 2009, 106(30): 12279-82.