Author

Mohammad Niknazar

ORCID 0000-0001-8247-9331Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Óscar PuigiD· 3 shared Michael Jansen· 2 shared R. Shraga· 2 shared Alex Bisignano· 1 shared Andrew Pollock· 1 shared Arun Prasad ManoharaniD· 1 shared Avner Hershlag· 1 shared Bonny Patel· 1 shared

Activity by Year

2017-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetics

Óscar PuigORCID

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3 papers

Recent·Most cited

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

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

R. Shraga, Sarah Yarnall, Sonya Elango, Arun Prasad Manoharan, Sally Ann Rodriguez, Sara L. Bristow, Neha Kumar, Mohammad Niknazar, David I. Hoffman, Shahin Ghadir, Rita Vassena, Serena H. Chen, Avner Hershlag, JAMIE A. GRIFO, Óscar Puig

The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.

BMC Genetics · Nov 27, 2017Peer-reviewedGenetics

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