M
Mark Gerstein
Researcher at Yale University
Publications - 802
Citations - 172183
Mark Gerstein is an academic researcher from Yale University. The author has contributed to research in topics: Genome & Gene. The author has an hindex of 168, co-authored 751 publications receiving 149578 citations. Previous affiliations of Mark Gerstein include Rutgers University & Structural Genomics Consortium.
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Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods
John C. Mu,Pegah Tootoonchi Afshar,Marghoob Mohiyuddin,Xi Chen,Jian Li,Narges Bani Asadi,Mark Gerstein,Wing Hung Wong,Hugo Y. K. Lam +8 more
TL;DR: This work leveraged the massive high-quality Sanger sequences from the HuRef genome to construct by far the most comprehensive gold set of a single individual, which was cross validated with deep Illumina sequencing, population datasets, and well-established algorithms.
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The Role of Cloud Computing in Managing the Deluge of Potentially Private Genetic Data
Dov Greenbaum,Mark Gerstein +1 more
TL;DR: An unprecedented hole in the protection of private data arises out of the creation of large-scale genomics studies because most laboratories have become, or will soon become, oversubscribed and underpowered vis-à-vis these data sets.
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Open access: taking full advantage of the content.
TL;DR: It is argued that, as yet, the full promise of open access has not been realized, and there are few persistent applications that collectively use the full on-line corpus, which for the biosciences at least is maintained in PubMed Central.
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Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Brian Shuch,Brian Shuch,Shantao Li,Harvey A. Risch,Ranjit S. Bindra,Patrick McGillivray,Mark Gerstein +6 more
TL;DR: Estimates for the FH carrier frequency and kidney cancer penetrance are provided and some patients develop a lethal form of kidney cancer.
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Uncovering trends in gene naming.
TL;DR: This work takes stock of current genetic nomenclature and attempts to organize strange and notable gene names, and categorizes those that involve a naming system transferred from another context (for example, Pavlov’s dogs).