A machine learning approach for somatic mutation discovery

Derrick E. Wood; James R. White; Andrew Georgiadis; Beth Van Emburgh; Sonya Parpart-Li; Jason Mitchell; Valsamo Anagnostou; Noushin Niknafs; Rachel Karchin; Eniko Papp; Christine McCord; Peter LoVerso; David Riley; Luis A. Diaz; Siân Jones; Mark Sausen; Victor E. Velculescu; Samuel V. Angiuoli

doi:10.1126/scitranslmed.aar7939

Research ResourceCancer

A machine learning approach for somatic mutation discovery

View ORCID ProfileDerrick E. Wood¹,
James R. White¹,
Andrew Georgiadis¹,
Beth Van Emburgh¹,
Sonya Parpart-Li¹,
Jason Mitchell¹,
View ORCID ProfileValsamo Anagnostou²,
View ORCID ProfileNoushin Niknafs²,
View ORCID ProfileRachel Karchin²,³,
View ORCID ProfileEniko Papp¹,
Christine McCord¹,
Peter LoVerso¹,
David Riley¹,
Luis A. Diaz Jr.⁴,
Siân Jones¹,
Mark Sausen¹,
View ORCID ProfileVictor E. Velculescu ²,* and
View ORCID ProfileSamuel V. Angiuoli¹,*

¹Personal Genome Diagnostics, Baltimore, MD 21224, USA.
²The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
³Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.
⁴Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

↵*Corresponding author. Email: velculescu{at}jhmi.edu (V.E.V.); angiuoli{at}personalgenome.com (S.V.A.)

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Science Translational Medicine 05 Sep 2018:
Vol. 10, Issue 457, eaar7939
DOI: 10.1126/scitranslmed.aar7939

Derrick E. Wood

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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James R. White

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Andrew Georgiadis

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Beth Van Emburgh

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Sonya Parpart-Li

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Jason Mitchell

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Valsamo Anagnostou

2The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Noushin Niknafs

2The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Rachel Karchin

2The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

3Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218, USA.

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Eniko Papp

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Christine McCord

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Peter LoVerso

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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David Riley

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Luis A. Diaz Jr.

4Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

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Siân Jones

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Mark Sausen

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Victor E. Velculescu

2The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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For correspondence: velculescu@jhmi.edu angiuoli@personalgenome.com

Samuel V. Angiuoli

1Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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For correspondence: velculescu@jhmi.edu angiuoli@personalgenome.com

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A machine learning approach for somatic mutation discovery

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