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Nature Methods, ISSN 1548-7091, 08/2018, Volume 15, Issue 8, pp. 595 - 597
Existing benchmark datasets for use in evaluating variant-calling accuracy are constructed from a consensus of known short-variant callers, and they are thus... 
FRAMEWORK | GENOME ASSEMBLIES | SNP | SEQUENCING DATA | DISCOVERY | BIOCHEMICAL RESEARCH METHODS | Usage | Research | Nucleotide sequencing | Genetic variation | Cell lines | DNA sequencing | Benchmarks
Journal Article
Nature Biotechnology, ISSN 1087-0156, 2019, Volume 37, Issue 5, pp. 555 - 560
Standardized benchmarking approaches are required to assess the accuracy of variants called from sequence data. Although variant-calling tools and the metrics... 
Benchmarks | Genomes | Performance measurement | Identification methods
Journal Article
by Tukiainen, Taru and Villani, Alexandra-Chloé and Yen, Angela and Rivas, Manuel A and Marshall, Jamie L and Satija, Rahul and Aguirre, Matt and Gauthier, Laura and Fleharty, Mark and Kirby, Andrew and Cummings, Beryl B and Castel, Stephane E and Karczewski, Konrad J and Aguet, François and Byrnes, Andrea and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Lek, Monkol and Li, Xiao and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casandra A and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Battle, Alexis and Bogu, Gireesh K and Brown, Andrew and Brown, Christopher D and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Cox, Nancy J and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Engelhardt, Barbara E and Eskin, Eleazar and Ferreira, Pedro G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D.H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Cedric and Im, Hae Kyung and Jo, Brian and Kang, Eun Yong and Kim, Yungil and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Li, Xin and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Montgomery, Stephen B and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nicolae, Dan L and Nobel, Andrew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, Yoson and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Scott, Alexandra J and Shabalin, Andrey A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Strober, Benjamin J and Sul, Jae Hoon and Tsang, Emily K and ... and GTEx Consortium and Leidos Biomedical—Project Management and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Biospecimen Collection Source Site—RPCI and Biospecimen Core Resource—VARI and ELSI Study and NIH/NIDA
Nature, ISSN 0028-0836, 10/2017, Volume 550, Issue 7675, pp. 244 - 248
Journal Article
Journal of Colloid And Interface Science, ISSN 0021-9797, 02/2014, Volume 416, pp. 105 - 111
The precise electrostatic potential distribution is very important for the electrokinetic transport in fluidic channels. This is especially valid for small... 
Nanochannels | Electrostatic potential | Charge regulation | Ionic conductivity | DOUBLE-LAYER INTERACTIONS | INTERFACES | CHEMISTRY, PHYSICAL | MODEL | DENSITY-FUNCTIONAL THEORY | Laws, regulations and rules | Nanotechnology | Electric properties | Nanocomposites | Nanomaterials | Nanostructure | Transport | Channels | Walls | Fluidics
Journal Article
Physical Review Letters, ISSN 0031-9007, 01/2016, Volume 116, Issue 4, p. 048301
The charge formation at interfaces involving electrolyte solutions is due to the chemical equilibrium between the surface reactive groups and the potential... 
ADHESION | FORCE | PHYSICS, MULTIDISCIPLINARY | COLLOIDAL PARTICLES | ELECTROLYTE-SOLUTIONS | POTENTIALS | DENSITY-FUNCTIONAL THEORY | ADSORPTION | SILICA SURFACES | RESTRICTED-PRIMITIVE-MODEL | CATIONS | Coupling (molecular) | Solvents | Charging | Control | Molecular structure | Electric charge | Charge | Formations
Journal Article
Nature biotechnology, ISSN 1087-0156, 03/2019, Volume 37, Issue 5, pp. 567 - 567
In the version of this article initially published online, two pairs of headings were switched with each other in Table 4: "Recall (PCR free)" was switched... 
Genomics | Recall | Genomes | Error correction
Journal Article
Physical Review Letters, ISSN 0031-9007, 10/2014, Volume 113, Issue 15, p. 158302
The interface between a doped semiconductor material and electrolyte solution is of considerable fundamental interest, and is relevant to systems of practical... 
DOUBLE-LAYER INTERACTIONS | ELECTRICAL DETECTION | PHYSICS, MULTIDISCIPLINARY | CHARGE REGULATION | NANOCRYSTALS | Colloids - chemistry | Models, Chemical | Semiconductors | Solutions | Kinetics | Electrolytes - chemistry | Static Electricity | Suspensions | Aqueous electrolytes | Phases | Stability | Colloids | Electrolytes | Charged particles | Electrostatics
Journal Article
by Zouk, Hana and Venner, Eric and Lennon, Niall J and Muzny, Donna M and Abrams, Debra and Adunyah, Samuel and Albertson-Junkans, Ladia and Ames, Darren C and Appelbaum, Paul and Aronson, Samuel and Aufox, Sharon and Babb, Lawrence J and Balasubramanian, Adithya and Bangash, Hana and Basford, Melissa and Bastarache, Lisa and Baxter, Samantha and Behr, Meckenzie and Benoit, Barbara and Bhoj, Elizabeth and Bielinski, Suzette J and Bland, Sarah T and Blout, Carrie and Borthwick, Kenneth and Bottinger, Erwin P and Bowser, Mark and Brand, Harrison and Brilliant, Murray and Brodeur, Wendy and Caraballo, Pedro and Carrell, David and Carroll, Andrew and Almoguera, Berta and Castillo, Lisa and Castro, Victor and Chandanavelli, Gauthami and Chiang, Theodore and Chisholm, Rex L and Christensen, Kurt D and Chung, Wendy and Chute, Christopher G and City, Brittany and Cobb, Beth L and Connolly, John J and Crane, Paul and Crew, Katherine and Crosslin, David and De Andrade, Mariza and De la Cruz, Jessica and Denson, Shawn and Denny, Josh and DeSmet, Tim and Dikilitas, Ozan and Friedrich, Christopher and Fullerton, Stephanie M and Funke, Birgit and Gabriel, Stacey and Gainer, Vivian and Gharavi, Ali and Glazer, Andrew M and Glessner, Joseph T and Goehringer, Jessica and Gordon, Adam S and Graham, Chet and Green, Robert C and Gundelach, Justin H and Dayal, Jyoti and Hain, Heather S and Hakonarson, Hakon and Harden, Maegan V and Harley, John and Harr, Margaret and Hartzler, Andrea and Hayes, M. Geoffrey and Hebbring, Scott and Henrikson, Nora and Hershey, Andrew and Hoell, Christin and Holm, Ingrid and Howell, Kayla M and Hripcsak, George and Hu, Jianhong and Jarvik, Gail P and Jayaseelan, Joy C and Jiang, Yunyun and Joo, Yoonjung Yoonie and Jose, Sheethal and Josyula, Navya Shilpa and Justice, Anne E and Kalla, Sara E and Kalra, Divya and Karlson, Elizabeth and Kelly, Melissa A and Keating, Brendan J and Kenny, Eimear E and Key, Dustin and Kiryluk, Krzysztof and Kitchner, Terrie and Klanderman, Barbara and Klee, Eric and ... and eMERGE Consortium and eMERGE Consortium. Electronic address: agibbs@bcm.edu
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 588 - 605
The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The... 
clinical sequencing | eMERGE | electronic health record | next generation sequencing | harmonization | FRAMEWORK | TRISOMY-12 MOSAICISM | VARIANTS | GENETICS & HEREDITY | FEATURES | Usage | Research | Nucleotide sequencing | DNA sequencing
Journal Article
Journal Article
Journal of Colloid And Interface Science, ISSN 0021-9797, 07/2015, Volume 449, Issue C, pp. 409 - 415
The interface between a semiconductor material and an electrolyte solution has interesting and complex electrostatic properties. Its behavior will depend on... 
Electric double layer | Boltzmann distribution | Semiconductor colloids | Particle interactions | Fermi–Dirac distribution | Charge regulation | Fermi-Dirac distribution | PHOSPHORUS | ENERGY | COLLOIDAL SILICON NANOCRYSTALS | CHEMISTRY, PHYSICAL | MODEL | SURFACE LIGANDS | NANOWIRE NANOSENSORS | ELECTRICAL DETECTION | Laws, regulations and rules | Electrolytes
Journal Article
01/2015, ISBN 9781321878448
Electrostatic properties of fluidic nanoscale systems are of fundamental interest and play an important role in many engineering applications. Due to the large... 
Nanoscience | Chemical engineering
Dissertation
The EMBO Journal, ISSN 0261-4189, 07/2011, Volume 30, Issue 14, pp. 2829 - 2842
The SAGA (Spt–Ada–Gcn5 acetyltransferase) complex is an important chromatin modifying complex that can both acetylate and deubiquitinate histones. Sgf29 is a... 
Tudor | Sgf29 | H3K4 methylation | SAGA | MOLECULAR REPLACEMENT | CODING REGIONS | PROTEIN IDENTIFICATION TECHNOLOGY | COACTIVATOR COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | SACCHAROMYCES-CEREVISIAE | MASS-SPECTROMETRY | CELL BIOLOGY | SWIRM DOMAIN | STRUCTURAL BASIS | TUDOR DOMAIN | ACETYLTRANSFERASE COMPLEXES | Acetyltransferases - metabolism | Peptide Fragments | Histone Acetyltransferases - chemistry | Saccharomyces cerevisiae - genetics | Humans | Histone Acetyltransferases - genetics | Molecular Sequence Data | Acetyltransferases - genetics | Saccharomyces cerevisiae - metabolism | Chromatin Immunoprecipitation | Histone Acetyltransferases - metabolism | Trans-Activators - genetics | Acetylation | Protein Structure, Tertiary | Amino Acid Sequence | RNA, Messenger - genetics | Gene Expression Regulation | Saccharomyces cerevisiae Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Acetyltransferases - chemistry | Sequence Homology, Amino Acid | Saccharomyces cerevisiae Proteins - metabolism | Trans-Activators - metabolism | Protein Processing, Post-Translational | Histones - metabolism | Saccharomyces cerevisiae Proteins - chemistry | Binding sites | Crystal structure | HUMAN POPULATIONS | CHROMATIN | BASIC BIOLOGICAL SCIENCES | ACETYLATION | COMPLEXES | LENGTH | SACCHAROMYCES CEREVISIAE | CRYSTAL STRUCTURE | IN VIVO | 60 APPLIED LIFE SCIENCES | HISTONES | PEPTIDES | ALANINES | IN VITRO | TARGETS | GENE REGULATION | RESIDUES | FUNCTIONALS
Journal Article