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. 2022 Apr;15(2):e003591.

doi: 10.1161/CIRCGEN.121.003591. Epub 2022 Feb 8.

Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

John E Gorzynski¹, Sneha D Goenka¹, Kishwar Shafin², Tanner D Jensen¹, Dianna G Fisk³, Megan E Grove³, Elizabeth Spiteri¹, Trevor Pesout², Jean Monlong², Jonathan A Bernstein¹, Scott Ceresnak¹, Pi-Chuan Chang⁴, Jeffrey W Christle¹, Henry Chubb¹, Kyla Dunn⁵, Daniel R Garalde⁶, Joseph Guillory⁶, Maura R Z Ruzhnikov¹, Chris Wright⁶, Courtney J Wusthoff¹, Katherine Xiong¹, Seth A Hollander¹, Gerald J Berry¹, Miten Jain², Fritz J Sedlazeck⁷, Andrew Carroll⁴, Benedict Paten², Euan A Ashley¹

Affiliations

Affiliations

¹ Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.).
² University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.).
³ Stanford Health Care, Palo Alto, CA (D.G.F., M.E.G.).
⁴ Google Inc, Mountain View, CA (P.-C.C., A.C.).
⁵ Stanford Children's Health, Palo Alto, CA (K.D.).
⁶ Oxford Nanopore Technologies, United Kingdom (D.R.G., J.G., C.W.).
⁷ Baylor College of Medicine, Houston, TX (F.J.S.).

PMID: 35133172
DOI: 10.1161/CIRCGEN.121.003591

Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

John E Gorzynski et al. Circ Genom Precis Med. 2022 Apr.

. 2022 Apr;15(2):e003591.

doi: 10.1161/CIRCGEN.121.003591. Epub 2022 Feb 8.

Authors

John E Gorzynski¹, Sneha D Goenka¹, Kishwar Shafin², Tanner D Jensen¹, Dianna G Fisk³, Megan E Grove³, Elizabeth Spiteri¹, Trevor Pesout², Jean Monlong², Jonathan A Bernstein¹, Scott Ceresnak¹, Pi-Chuan Chang⁴, Jeffrey W Christle¹, Henry Chubb¹, Kyla Dunn⁵, Daniel R Garalde⁶, Joseph Guillory⁶, Maura R Z Ruzhnikov¹, Chris Wright⁶, Courtney J Wusthoff¹, Katherine Xiong¹, Seth A Hollander¹, Gerald J Berry¹, Miten Jain², Fritz J Sedlazeck⁷, Andrew Carroll⁴, Benedict Paten², Euan A Ashley¹

Affiliations

¹ Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.).
² University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.).
³ Stanford Health Care, Palo Alto, CA (D.G.F., M.E.G.).
⁴ Google Inc, Mountain View, CA (P.-C.C., A.C.).
⁵ Stanford Children's Health, Palo Alto, CA (K.D.).
⁶ Oxford Nanopore Technologies, United Kingdom (D.R.G., J.G., C.W.).
⁷ Baylor College of Medicine, Houston, TX (F.J.S.).

PMID: 35133172
DOI: 10.1161/CIRCGEN.121.003591

No abstract available

Keywords: cardiomyopathy; diagnosis; dilated; genome; genomics; sequence analysis, DNA.

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