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Paper Details

Best practices for benchmarking germline small-variant calls in human genomes.
Nat Biotechnol
183
2019
germline, high-confidence regions, human, human genomes, single-nucleotide variant
Algorithms, Benchmarking, Exome, Genome, Human, Genomics, Germ Cells, High-Throughput Nucleotide Sequencing, Humans, Polymorphism, Single Nucleotide, Software
Author NameAffiliation
Peter KruscheIllumina Cambridge Ltd
Len Trigg
Paul C BoutrosOntario Institute for Cancer Research
Christopher E Mason
Christopher E Mason
Christopher E MasonThe Feil Family Brain and Mind Research Institute
Christopher E MasonThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine
Christopher E Mason
Christopher E MasonThe HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine
Christopher E MasonThe Feil Family Brain and Mind Research Institute
Christopher E Mason
Francisco M De La VegaStanford University School of Medicine
Benjamin L MooreIllumina Cambridge Ltd
Mar Gonz??lez-PortaIllumina Cambridge Ltd
Michael A EberleIllumina Inc.
Michael A EberleIllumina Inc.
Zivana TezakCenter for Devices and Radiological Health
Zivana TezakCenter for Devices and Radiological Health
Samir Lababidi
Rebecca Truty
George Asimenos
George Asimenos
Birgit Funke
Birgit Funke
Mark FlehartyBroad Institute
Mark FlehartyBroad Institute
Brad A ChapmanHarvard T.H. Chan School of Public Health
Marc SalitStanford University
Justin M ZookNational Institute of Standards and Technology
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