Response to Whiffin et al

Affiliations

¹ Human Longevity Inc., San Diego, CA 92121, USA.
² Baylor College of Medicine, Houston, TX 77030, USA.
³ J. Craig Venter Institute, La Jolla, CA 92037, USA.
⁴ The Scripps Research Institute, La Jolla, CA 92037, USA. Electronic address: atelenti@scripps.edu.

Comment

Naisha Shah et al. Am J Hum Genet. 2019.

. 2019 Jan 3;104(1):186.

doi: 10.1016/j.ajhg.2018.11.011.

¹ Human Longevity Inc., San Diego, CA 92121, USA.
² Baylor College of Medicine, Houston, TX 77030, USA.
³ J. Craig Venter Institute, La Jolla, CA 92037, USA.
⁴ The Scripps Research Institute, La Jolla, CA 92037, USA. Electronic address: atelenti@scripps.edu.

No abstract available

Comment on

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
Shah N, Hou YC, Yu HC, Sainger R, Caskey CT, Venter JC, Telenti A. Shah N, et al. Am J Hum Genet. 2018 Apr 5;102(4):609-619. doi: 10.1016/j.ajhg.2018.02.019. Am J Hum Genet. 2018. PMID: 29625023 Free PMC article.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Whiffin N, et al. Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. Am J Hum Genet. 2019. PMID: 30609406 Free PMC article. No abstract available.

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1. Shah N., Hou Y.C., Yu H.C., Sainger R., Caskey C.T., Venter J.C., Telenti A. Identification of misclassified ClinVar variants via disease population prevalence. Am. J. Hum. Genet. 2018;102:609–619. - PMC - PubMed
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