Author

Michael Jansen

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Óscar PuigiD· 3 shared Andrew Pollock· 2 shared Bonny Patel· 2 shared Chih-Yu Chang· 2 shared Malgorzata Jaremko· 2 shared Matthew Akana· 2 shared Mohammad NiknazariD· 2 shared Rebecca Fox· 2 shared

Activity by Year

2017-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Óscar PuigORCID

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3 papers

Recent·Most cited

Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population

Greg Kellogg, Bolli Þórsson, Ying Cai, Robert G. Wisotzkey, Andrew Pollock, Matthew Akana, Rebecca Fox, Michael Jansen, Elias Freyr Gudmundsson, Bonny Patel, Chih-Yu Chang, Malgorzata Jaremko, Valur Emilsson, Vilmundur G. Gudnason, Óscar Puig

The paper develops an NGS panel to identify pathogenic LDLR mutations in Icelandic FH families and population-based samples with high cholesterol.

bioRxiv · Sep 27, 2018 · PreprintGenetics

Comprehensive Genetic Testing for Female and Male Infertility Using Next Generation Sequencing

Bonny Patel, Sasha E. Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chih-Yu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, R. Shraga, Colby Hunter, Andrew Pollock, Robert G. Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Óscar Puig

This study develops a comprehensive NGS panel for genetic testing of infertility, showing high accuracy and cost savings compared to standard methods.

Journal of Assisted Reproduction and Genetics · May 18, 2018Peer-reviewedGenomics

SMN1 and SMN2 Copy Number Determination by droplet digital PCR (ddPCR) based on Extreme Value Theory for Threshold Estimation

Mohammad Niknazar, Michael Jansen, Óscar Puig

This paper improves SMN1 and SMN2 copy number determination using ddPCR by applying extreme value theory for threshold estimation, achieving higher accuracy than QuantaSoft on challenging samples.

bioRxiv · Nov 16, 2017 · PreprintGenetics