Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution MatrixHu, Hao ; Huff, Chad D. ; Moore, Barry ; Flygare, Steven ; Reese, Martin G. ; Yandell, MarkGenetic epidemiology, 2013-09, Vol.37 (6), p.622-634 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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2 |
Material Type: Artigo
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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase DeficiencyRope, Alan F. ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J. ; Swensen, Jeffrey J. ; Johnson, W. Evan ; Moore, Barry ; Huff, Chad D. ; Bird, Lynne M. ; Carey, John C. ; Opitz, John M. ; Stevens, Cathy A. ; Jiang, Tao ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T. ; Pysher, Theodore J. ; Jorde, Lynn B. ; Hakonarson, Hakon ; Lillehaug, Johan R. ; Biesecker, Leslie G. ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J.American journal of human genetics, 2011-07, Vol.89 (1), p.28-43 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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A probabilistic disease-gene finder for personal genomesYandell, Mark ; Huff, Chad ; Hu, Hao ; Singleton, Marc ; Moore, Barry ; Xing, Jinchuan ; Jorde, Lynn B ; Reese, Martin GGenome research, 2011-09, Vol.21 (9), p.1529-1542 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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4 |
Material Type: Artigo
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHu, Hao ; Roach, Jared C ; Coon, Hilary ; Guthery, Stephen L ; Voelkerding, Karl V ; Margraf, Rebecca L ; Durtschi, Jacob D ; Tavtigian, Sean V ; Shankaracharya ; Wu, Wilfred ; Scheet, Paul ; Wang, Shuoguo ; Xing, Jinchuan ; Glusman, Gustavo ; Hubley, Robert ; Li, Hong ; Garg, Vidu ; Moore, Barry ; Hood, Leroy ; Galas, David J ; Srivastava, Deepak ; Reese, Martin G ; Jorde, Lynn B ; Yandell, Mark ; Huff, Chad DNature biotechnology, 2014-07, Vol.32 (7), p.663-669 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization toolFlygare, Steven ; Hernandez, Edgar Javier ; Phan, Lon ; Moore, Barry ; Li, Man ; Fejes, Anthony ; Hu, Hao ; Eilbeck, Karen ; Huff, Chad ; Jorde, Lynn ; G Reese, Martin ; Yandell, MarkBMC bioinformatics, 2018-02, Vol.19 (1), p.57-57, Article 57 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase DeficiencyRope, Alan F. ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J. ; Swensen, Jeffrey J. ; Johnson, W. Evan ; Moore, Barry ; Huff, Chad D. ; Bird, Lynne M. ; Carey, John C. ; Opitz, John M. ; Stevens, Cathy A. ; Jiang, Tao ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T. ; Pysher, Theodore J. ; Jorde, Lynn B. ; Hakonarson, Hakon ; Lillehaug, Johan R. ; Biesecker, Leslie G. ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J.American journal of human genetics, 2011-08, Vol.89 (2), p.345-345 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiencyRope, Alan F ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J ; Swensen, Jeffrey J ; Johnson, W Evan ; Moore, Barry ; Huff, Chad D ; Bird, Lynne M ; Carey, John C ; Opitz, John M ; Stevens, Cathy A ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T ; Pysher, Theodore J ; Jorde, Lynn B ; Hakonarson, Hakon ; Lillehaug, Johan R ; Biesecker, Leslie G ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson JGenome biology, 2011-01, Vol.12 (S1), p.P13-P13, Article P13 [Periódico revisado por pares]BioMed Central LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing DataKennedy, Brett ; Kronenberg, Zev ; Hu, Hao ; Moore, Barry ; Flygare, Steven ; Reese, Martin G. ; Jorde, Lynn B. ; Yandell, Mark ; Huff, ChadCurrent Protocols in Human Genetics, 2014-04, Vol.81 (1), p.6.14.1-6.14.25United StatesTexto completo disponível |
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9 |
Material Type: Artigo
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence dataHu, Hao ; Roach, Jared C ; Coon, Hilary ; Guthery, Stephen L ; Voelkerding, Karl V ; Margraf, Rebecca L ; Durtschi, Jacob D ; Tavtigian, Sean V ; Shankaracharya ; Wu, Wilfred ; Scheet, Paul ; Wang, Shuoguo ; Xing, Jinchuan ; Glusman, Gustavo ; Hubley, Robert ; Li, Hong ; Garg, Vidu ; Moore, Barry ; Hood, Leroy ; Galas, David J ; Srivastava, Deepak ; Reese, Martin G ; Jorde, Lynn B ; Yandell, Mark ; Huff, Chad DNature Biotechnology, 2014-07, Vol.32 (7), p.663-669eScholarship, University of CaliforniaSem texto completo |
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10 |
Material Type: Ata de Congresso
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Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiencyRope, Alan F ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J ; Swensen, Jeffrey J ; Johnson, W. E ; Moore, Barry ; Huff, Chad D ; Bird, Lynne M ; Carey, John C ; Opitz, John M ; Stevens, Cathy A ; Schank, Christa ; Fain, Heidi D ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T ; Pysher, Theodore J ; Jorde, Lynn B ; Hakonarson, Hakon ; Lillehaug, Johan ; Biesecker, Leslie G ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson JBioMed Central 2011Texto completo disponível |