Author

Matthew Akana

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew Pollock· 2 shared Bonny Patel· 2 shared Chih-Yu Chang· 2 shared Malgorzata Jaremko· 2 shared Michael Jansen· 2 shared Óscar PuigiD· 2 shared Rebecca Fox· 2 shared Robert G. Wisotzkey· 2 shared

Activity by Year

2018-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Andrew Pollock

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 27, 2018

Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population

Greg Kellogg, Bolli Þórsson, Ying Cai…·Óscar Puig

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

DOI 10.1101/425975

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsJournal of Assisted Reproduction and GeneticsPeer-reviewedMay 18, 2018

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

Bonny Patel, Sasha E. Parets, Matthew Akana…·Óscar Puig

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

74 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky