Beyond the exome

DFG funded Research Group

People of Beyond the exome

Dr. rer. nat. Birte Kehr

Testbeschreibung Berlin Institute of Health
Junior Research Group for Genome Informatics
Anna-Louisa-Karsch Str. 2
D-10178 Berlin, Germany

Phone: +49 (0)30 450 543604
FAX: +49 (0)30 450 7 543901

Birte Kehr, PhD, leads the junior research group for Genome Informatics at the Berlin Institute of Health (BIH) within Charité University Hospital, Berlin. She is a bioinformatician in the field of genome sequence analysis and specializes in the development of methods for SV detection and genotyping. Prior to joining the BIH, Birte Kehr worked as a Research Scientist at deCODE genetics in Iceland for three years. During this time, she gained experience in analyzing large-scale genomic data and developed a particular interest in structural variation discovery for understanding human disease. Among the computational approaches she has developed, implemented and applied to large-scale sequencing data are the tools PopIns, PopDel and Stellar. Furthermore, she was involved in developing popSTR, PopAlu and Graphtyper. Her work has led to the discovery of multiple structural variants involved in various diseases, including cardiovascular disease and cancer. She published a call set of structural variants that involve non-reference sequence for more than 15,000 Icelanders and contributed to work that characterized the influence of parental origin of de novo mutation on mutational patterns in more than 1,500 Icelandic trios. As a member of the group that developed the SeqAn C++ library, she received her doctorate in 2014 from the Free University of Berlin at the department for mathematics and computer science and within the International Max Planck Research School for Computational Biology and Scientific Computing. Her thesis addressed algorithms and data structures for multiple whole-genome alignment.

Publications (selection)

Kehr B, Helgadottir A, Melsted P, Jonsson H, Helgason H, Jonasdottir Ad, Jonasdottir As, Sigurdsson A, Gylfason A, Halldorsson GH, Kristmundsdottir S, Thorgeirsson G, Olafsson I, Holm H, Thorsteinsdottir U, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Diversity in non-repetitive human sequences not found in the refer-ence genome. Nature Genetics 2017;49:588-593.

Jonsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SAA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir As, Jonasdottir Ad, Rafnar Th, Frigge M, Stacey SN, Magnusson OTh, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature 2017;549:519-522.

Kehr B, Melsted P, Halldorsson BV. PopIns: population-scale detection of novel sequence insertions. Bioinformatics 2016;32(7):961-967.

Stacey SN, Kehr B, Gudmundsson J, Zink F, Jonasdottir A, Gudjonsson SA, Sigurdsson A, Halldorsson BV, Agnarsson BA, Benediktsdottir KR, Aben KK, Vermeulen SH, Cremers RG, Panadero A, Helfand BT, Cooper PR, Donovan JL, Hamdy FC, Jinga V, Okamoto I, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Masson G, Magnusson OT, Iordache PD, Helgason A, Helgason H, Sulem P, Gudbjartsson DF, Kong A, Jonsson E, Barkardottir RB, Einarsson GV, Rafnar T, Thorsteinsdottir U, Mates IN, Neal DE, Catalona WJ, Mayordomo JI, Kiemeney LA, Thorleifsson G, Stefansson K. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. Human Molecular Genetics 2016;25:1008-18.

Kehr B, Weese D, Reinert K. STELLAR: fast and exact local alignments. BMC Bioinformatics 2011, 12(Suppl 9):S15.