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University Medical Center Groningen

Kristin Abbott, PhD

Senior staff member in Genome Diagnostics
Dr Kristin Abbott
Dr Kristin Abbott

MSc: Biology, Wageningen University, the Netherlands
PhD thesis: A Molecular Genetic Study of Mhc-DRB Genes in the Mandrill (Mandrillus sphinx). University of Cambridge, UK, 2005

Email

See publications in GoogleScholar

Keywords: NGS, molecular genetics, NGS variant interpretation, analysis pipelines, preconception screening

Short Biography

Kristin is a molecular geneticist who completed her PhD thesis “A Molecular Genetic Study of Mhc-DRB Genes in the Mandrill (Mandrillus sphinx)” in the Department of Biological Anthropology at the University of Cambridge (UK) in 2005. After doing a couple of years of related MHC post-doctoral research, Kristin turned her attention to human medical genetics, applying her extensive research experience to improve the capacity of medical diagnostics.

In early 2008 Kristin joined the Medical Genetics department of Cambridge University Hospitals (Addenbrooke’s Hospital), where she made significant contributions to array copy number variation interpretation, diagnostic test development and functional interpretation studies (in collaboration with the MRC Laboratory of Molecular Biology and the Cambridge Institute for Medical Research).

In 2013 Kristin moved to the Netherlands to join the Genome Diagnostics team at University Medical Center Groningen, headed by Prof. Richard Sinke. Here she develops and manages new diagnostic analysis pipelines for NGS, as well as managing variant curation databases. Kristin is continually working to improve NGS data interpretation strategies, including refining strategies used for exome and genome sequencing data analysis.

Kristin is a member of the of Dutch VKGN/VKGL preconception carrier screening working group and the Dutch VKGL data-sharing group. She also supervises 4th year projects carried out in the Genetics department by Higher Laboratory School (HLO) students.

ESHG 2018 'NGS expanded carrier screening in the Netherlands: initial implementation results' poster presented by KM Abbott, T Dijkhuizen, M Veldhuis, J Schuurmans, I van Langen, RJ Sinke

Publications in Human Genetics

See all 35 publications in GoogleScholar; Citations 531; H-index 11

Last modified:10 July 2018 3.14 p.m.