C
Carolyn Brown
Researcher at Illumina
Publications - 3
Citations - 99
Carolyn Brown is an academic researcher from Illumina. The author has contributed to research in topics: Excitatory postsynaptic potential & Copy-number variation. The author has an hindex of 2, co-authored 3 publications receiving 57 citations.
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Journal ArticleDOI
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross,Subramanian S. Ajay,Vani Rajan,Carolyn Brown,Krista Bluske,Nicole J. Burns,Aditi Chawla,Alison J. Coffey,Alka Malhotra,Alicia Scocchia,Erin Thorpe,Natasa Dzidic,Karine Hovanes,Trilochan Sahoo,Egor Dolzhenko,Bryan R. Lajoie,Amirah Khouzam,Shimul Chowdhury,John W Belmont,Eric Roller,Sergii Ivakhno,Stephen Tanner,Julia McEachern,Tina Hambuch,Michael A. Eberle,R. Tanner Hagelstrom,David R. Bentley,Denise L. Perry,Ryan J. Taft +28 more
TL;DR: It is found that CNV calls from GS are at least as sensitive as those from microarrays, while only creating a modest increase in the number of variants interpreted, suggesting that robust identification of CNVs by GS is possible within a clinical testing environment.
Journal ArticleDOI
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
Jia Hui Sun,Jiang Chen,Fernando Eduardo Ayala Valenzuela,Carolyn Brown,Diane Masser-Frye,Marilyn C. Jones,Leslie Patrón Romero,Berardo Rinaldi,Wenhui Laura Li,Qing Qing Li,Dan Wu,Bénédicte Gérard,Erin Thorpe,Allan Bayat,Yun Stone Shi +14 more
TL;DR: In this article, a de novo pathogenic missense variant in GRIA3 (c.1979G>C; p. R660T) was identified in a 1-year-old female patient with severe epilepsy and global developmental delay.
Posted ContentDOI
Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross,Subramanian S. Ajay,Rajan,Carolyn Brown,Krista Bluske,Nicole J. Burns,Aditi Chawla,Alison J. Coffey,Alka Malhotra,Alicia Scocchia,Erin Thorpe,Natasa Dzidic,Karine Hovanes,Trilochan Sahoo,Egor Dolzhenko,Bryan R. Lajoie,Amirah Khouzam,Shimul Chowdhury,John W Belmont,Eric Roller,Sergii Ivakhno,Stephen Tanner,Julia McEachern,Tina Hambuch,Michael A. Eberle,R. Tanner Hagelstrom,David R. Bentley,Denise L. Perry,Ryan J. Taft +28 more
TL;DR: It is found that CNV calls from WGS are at least as sensitive as those from microarrays, while only creating a modest increase in the number of variants interpreted (~10 CNVs per case).