Risultati della ricerca - Eberle, Michael A

Allele Frequency Matching Between SNPs Reveals an Excess of Linkage Disequilibrium in Genic Regions of the Human Genome di Eberle, Michael A, Rieder, Mark J, Kruglyak, Leonid, Nickerson, Deborah A

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Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β (TCRB) Locus di Subrahmanyan, Lakshman, Eberle, Michael A., Clark, Andrew G., Kruglyak, Leonid, Nickerson, Deborah A.

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Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium di Carlson, Christopher S., Eberle, Michael A., Rieder, Mark J., Yi, Qian, Kruglyak, Leonid, Nickerson, Deborah A.

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Lower-Than-Expected Linkage Disequilibrium between Tightly Linked Markers in Humans Suggests a Role for Gene Conversion di Ardlie, Kristin, Liu-Cordero, Shau Neen, Eberle, Michael A., Daly, Mark, Barrett, Jeff, Winchester, Ellen, Lander, Eric S., Kruglyak, Leonid

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Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes di Akey, Joshua M, Eberle, Michael A, Rieder, Mark J, Carlson, Christopher S, Shriver, Mark D, Nickerson, Deborah A, Kruglyak, Leonid

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Large scale in silico characterization of repeat expansion variation in human genomes di Fazal, Sarah, Danzi, Matt C., Cintra, Vivian P., Bis-Brewer, Dana M., Dolzhenko, Egor, Eberle, Michael A., Zuchner, Stephan

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Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data di Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.

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Genomic regions exhibiting positive selection identified from dense genotype data di Carlson, Christopher S., Thomas, Daryl J., Eberle, Michael A., Swanson, Johanna E., Livingston, Robert J., Rieder, Mark J., Nickerson, Deborah A.

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Extensive and breed-specific linkage disequilibrium in Canis familiaris di Sutter, Nathan B., Eberle, Michael A., Parker, Heidi G., Pullar, Barbara J., Kirkness, Ewen F., Kruglyak, Leonid, Ostrander, Elaine A.

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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions di Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

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Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions di Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

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Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations di Crawford, Dana C., Carlson, Christopher S., Rieder, Mark J., Carrington, Dana P., Yi, Qian, Smith, Joshua D., Eberle, Michael A., Kruglyak, Leonid, Nickerson, Deborah A.

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Whole-genome haplotyping by dilution, amplification, and sequencing di Kaper, Fiona, Swamy, Sajani, Klotzle, Brandy, Munchel, Sarah, Cottrell, Joseph, Bibikova, Marina, Chuang, Han-Yu, Kruglyak, Semyon, Ronaghi, Mostafa, Eberle, Michael A., Fan, Jian-Bing

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Paragraph: a graph-based structural variant genotyper for short-read sequence data di Chen, Sai, Krusche, Peter, Dolzhenko, Egor, Sherman, Rachel M., Petrovski, Roman, Schlesinger, Felix, Kirsche, Melanie, Bentley, David R., Schatz, Michael C., Sedlazeck, Fritz J., Eberle, Michael A.

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A New Susceptibility Locus for Autosomal Dominant Pancreatic Cancer Maps to Chromosome 4q32-34 di Eberle, Michael A., Pfützer, Roland, Pogue-Geile, Kay L., Bronner, Mary P., Crispin, David, Kimmey, Michael B., Duerr, Richard H., Kruglyak, Leonid, Whitcomb, David C., Brentnall, Teresa A.

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Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels di Eberle, Michael A, Ng, Pauline C, Kuhn, Kenneth, Zhou, Lixin, Peiffer, Daniel A, Galver, Luana, Viaud-Martinez, Karine A, Lawley, Cynthia Taylor, Gunderson, Kevin L, Shen, Richard, Murray, Sarah S

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Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene di Toffoli, Marco, Chen, Xiao, Sedlazeck, Fritz J., Lee, Chiao-Yin, Mullin, Stephen, Higgins, Abigail, Koletsi, Sofia, Garcia-Segura, Monica Emili, Sammler, Esther, Scholz, Sonja W., Schapira, Anthony H. V., Eberle, Michael A., Proukakis, Christos

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data di Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.

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A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree di Eberle, Michael A., Fritzilas, Epameinondas, Krusche, Peter, Källberg, Morten, Moore, Benjamin L., Bekritsky, Mitchell A., Iqbal, Zamin, Chuang, Han-Yu, Humphray, Sean J., Halpern, Aaron L., Kruglyak, Semyon, Margulies, Elliott H., McVean, Gil, Bentley, David R.

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Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes di Krusche, Peter, Trigg, Len, Boutros, Paul C., Mason, Christopher E., De La Vega, Francisco M., Moore, Benjamin L., Gonzalez-Porta, Mar, Eberle, Michael A., Tezak, Zivana, Lababidi, Samir, Truty, Rebecca, Asimenos, George, Funke, Birgit, Fleharty, Mark, Chapman, Brad A., Salit, Marc, Zook, Justin M

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