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Population Stratification in Genetic Association Studies
Hellwege, Jacklyn N, Keaton, Jacob M, Giri, Ayush, Gao, Xiaoyi, Velez Edwards, Digna R, Edwards, Todd L
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Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines
Harrison, Steven M, Biesecker, Leslie G, Rehm, Heidi L
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Predicting functional effect of human missense mutations using PolyPhen-2
Adzhubei, Ivan, Jordan, Daniel M, Sunyaev, Shamil R
Published in Current protocols in human genetics (01.01.2013)
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Clinical Interpretation of Sequence Variants
Zhang, Junyu, Yao, Yanyi, He, Haixian, Shen, Jun
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Genetic Risk Scores
Igo, Jr, Robert P, Kinzy, Tyler G, Cooke Bailey, Jessica N
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SNP genotyping using the Sequenom MassARRAY iPLEX platform
Gabriel, Stacey, Ziaugra, Liuda, Tabbaa, Diana
Published in Current protocols in human genetics (01.01.2009)
Published in Current protocols in human genetics (01.01.2009)
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Using ClinVar as a Resource to Support Variant Interpretation
Harrison, Steven M, Riggs, Erin R, Maglott, Donna R, Lee, Jennifer M, Azzariti, Danielle R, Niehaus, Annie, Ramos, Erin M, Martin, Christa L, Landrum, Melissa J, Rehm, Heidi L
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Published in Current protocols in human genetics (01.04.2016)
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Using Electronic Health Records To Generate Phenotypes For Research
Pendergrass, Sarah A, Crawford, Dana C
Published in Current protocols in human genetics (01.01.2019)
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The AD Knowledge Portal: A Repository for Multi‐Omic Data on Alzheimer's Disease and Aging
Greenwood, Anna K., Montgomery, Kelsey S., Kauer, Nicole, Woo, Kara H., Leanza, Zoe J., Poehlman, William L., Gockley, Jake, Sieberts, Solveig K., Bradic, Ljubomir, Logsdon, Benjamin A., Peters, Mette A., Omberg, Larsson, Mangravite, Lara M.
Published in Current Protocols in Human Genetics (01.12.2020)
Published in Current Protocols in Human Genetics (01.12.2020)
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Matchmaker Exchange
Sobreira, Nara L M, Arachchi, Harindra, Buske, Orion J, Chong, Jessica X, Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O B, Haendel, Melissa A, Boycott, Kym M, Hamosh, Ada, Rehm, Heidi L
Published in Current protocols in human genetics (01.10.2017)
Published in Current protocols in human genetics (01.10.2017)
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CRISPR/Cas9-Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells
Sharma, Arun, Toepfer, Christopher N, Ward, Tarsha, Wasson, Lauren, Agarwal, Radhika, Conner, David A, Hu, Johnny H, Seidman, Christine E
Published in Current protocols in human genetics (24.01.2018)
Published in Current protocols in human genetics (24.01.2018)
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Chemically Defined Culture and Cardiomyocyte Differentiation of Human Pluripotent Stem Cells
Burridge, Paul W, Holmström, Alexandra, Wu, Joseph C
Published in Current protocols in human genetics (06.10.2015)
Published in Current protocols in human genetics (06.10.2015)
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Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics
Köhler, Sebastian, Øien, N Christine, Buske, Orion J, Groza, Tudor, Jacobsen, Julius O B, McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C, Gourdine, J P, Gargano, Michael, McMurry, Julie A, Danis, Daniel, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa, Robinson, Peter N
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Published in Current protocols in human genetics (01.09.2019)
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Strategies for Pathway Analysis Using GWAS and WGS Data
White, Marquitta J, Yaspan, Brian L, Veatch, Olivia J, Goddard, Pagé, Risse-Adams, Oona S, Contreras, Maria G
Published in Current protocols in human genetics (01.01.2019)
Published in Current protocols in human genetics (01.01.2019)
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COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer
Forbes, S A, Beare, D, Bindal, N, Bamford, S, Ward, S, Cole, C G, Jia, M, Kok, C, Boutselakis, H, De, T, Sondka, Z, Ponting, L, Stefancsik, R, Harsha, B, Tate, J, Dawson, E, Thompson, S, Jubb, H, Campbell, P J
Published in Current protocols in human genetics (11.10.2016)
Published in Current protocols in human genetics (11.10.2016)
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The Catalogue of Somatic Mutations in Cancer (COSMIC)
Forbes, S A, Bhamra, G, Bamford, S, Dawson, E, Kok, C, Clements, J, Menzies, A, Teague, J W, Futreal, P A, Stratton, M R
Published in Current protocols in human genetics (01.04.2008)
Published in Current protocols in human genetics (01.04.2008)
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