المؤلفون: Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica, Wang, Harold, Currall, Benjamin, OKeefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir, Whelan, Christopher, Hao, Stephanie, Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan, Zhao, Xuefang, Austin-Tse, Christina, Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla, Lucente, Diane, Gauthier, Laura, Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, MacKenzie, Tippi, Devlin, Bernie, Gilmore, Kelly, Powell, Bradford, Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, MacArthur, Daniel, Hodge, Jennelle, ODonnell-Luria, Anne, Rehm, Heidi, Vora, Neeta, Levy, Brynn, Brand, Harrison, Wapner, Ronald, Talkowski, Michael, Norton, Mary, Sanders, Stephan

المصدر: American Journal of Human Genetics. 110(9)

مصطلحات موضوعية: genome sequencing, karyotype, microarray, exome sequencing, structural variant, autism spectrum disorder, structural anomaly, prenatal, first-tier, diagnostic, Female, Pregnancy, Humans, Autism Spectrum Disorder, Pregnancy Trimester, First, Ultrasonography, Prenatal, Chromosome Mapping, Exome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2m24g89pTest

المؤلفون: Fu, Jack M, Satterstrom, F Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L, Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P, Stevens, Christine R, Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B, Gauthier, Laura, Lee, Samuel K, Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N, Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian HY, Cook, Edwin H, Cuccaro, Michael L, Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J Jay, Herman, Gail E, Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S, Passos-Bueno, Maria Rita, Persico, Antonio M, Renieri, Alessandra, Sutcliffe, James S, Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus CY, Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N, Schmidt, Rebecca J, Smith, Moyra, Costa, Claudia IS, Trajkova, Slavica, Wang, Jaqueline YT, Yu, Mullin HC, Cutler, David J, De Rubeis, Silvia, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J, Talkowski, Michael E

المصدر: Nature Genetics. 54(9)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Autism, Brain Disorders, Pediatric, Biotechnology, Intellectual and Developmental Disabilities (IDD), Human Genome, Mental Health, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autism Spectrum Disorder, Autistic Disorder, DNA Copy Number Variations, Genetic Predisposition to Disease, Humans, Mutation, Autism Sequencing Consortium, Broad Institute Center for Common Disease Genomics, iPSYCH-BROAD Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/04m356rrTest

المؤلفون: Rehm, Heidi, Goodrich, Julia, Chao, Katherine, Laricchia, Kristen, Wilson, Michael, Fu, Jack, Tiao, Grace, He, Qin, Marten, Daniel, Poterba, Timothy, Vittal, Christopher, Chen, Siwei, Lu, Wenhan, Baxter, Samantha, Chapman, Sinéad, Cusick, Caroline, Darnowsky, Philip, Gauthier, Laura, Gruenschloss, Leonhard, Grant, Riley, Jahl, Stephen, Solomonson, Matthew, Stevens, Christine, MacArthur, Daniel, Talkowski, Michael, Neale, Benjamin, O'Donnell-Luria, Anne, Samocha, Kaitlin, Karczewski, Konrad, Daly, Mark

المصدر: Genetics in Medicine Open ; volume 2, page 101475 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101475Test
https://api.elsevier.com/content/article/PII:S2949774424006216?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006216?httpAccept=text/plainTest

المؤلفون: Collins, Ryan L, Brand, Harrison, Karczewski, Konrad J, Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C, Khera, Amit V, Lowther, Chelsea, Gauthier, Laura D, Wang, Harold, Watts, Nicholas A, Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W, Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R, Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M, Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D, Lin, Henry J, Rich, Stephen S, Post, Wendy S, Chen, Yii-Der Ida, Rotter, Jerome I, Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M, Kathiresan, Sekar, Daly, Mark J, Banks, Eric, MacArthur, Daniel G, Talkowski, Michael E

المصدر: Nature. 581(7809)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Generic health relevance, Disease, Female, Genetic Testing, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genotyping Techniques, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Racial Groups, Reference Standards, Selection, Genetic, Whole Genome Sequencing, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/25h6t9dpTest

المؤلفون: Tukiainen, Taru, Villani, Alexandra-Chloe, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Ummings, Beryl B. . C., Astel, Stephane E. C., Karczewski, Konrad J., Aguet, Francois, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G., GTEx Consortium, Han, Buhm

المساهمون: Han, Buhm

مصطلحات موضوعية: SINGLE-CELL, GENE-EXPRESSION, ALLELIC EXPRESSION, DNA METHYLATION, PATTERNS, TRANSCRIPTOME

العلاقة: Nature, Vol.550 No.7675, pp.244-248; https://hdl.handle.net/10371/191526Test; 000412829500046; 2-s2.0-85031299871; 181329

الإتاحة: https://doi.org/10.1038/nature24265Test
https://hdl.handle.net/10371/191526Test

المؤلفون: Lu, Wenhan, Gauthier, Laura D., Poterba, Timothy, Giacopuzzi, Edoardo, Goodrich, Julia K., Stevens, Christine R., King, Daniel, Daly, Mark J., Neale, Benjamin M., Karczewski, Konrad J.

المساهمون: National Institutes of Health, National Institute of Mental Health, National Human Genome Research Institute

المصدر: The American Journal of Human Genetics ; volume 110, issue 12, page 2068-2076 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.10.011Test
https://api.elsevier.com/content/article/PII:S0002929723003646?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723003646?httpAccept=text/plainTest

المؤلفون: Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G, Exome Aggregation Consortium

المصدر: Nature. 536(7616)

مصطلحات موضوعية: Exome Aggregation Consortium, Humans, Rare Diseases, Proteome, Sample Size, DNA Mutational Analysis, Phenotype, Genetic Variation, Exome, Datasets as Topic, Clinical Research, Biotechnology, Human Genome, Genetics, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/04j4327sTest

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, Abreu, Maria, Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Armean, Irina M., Atkinson, Elizabeth G., Atzmon, Gil, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Boehnke, Michael, Weersma, Rinse K.

المصدر: Genome Aggregation Database Consortium , Chen , S , Francioli , L C , Goodrich , J K , Collins , R L , Kanai , M , Wang , Q , Alföldi , J , Watts , N A , Vittal , C , Gauthier , L D , Poterba , T , Wilson , M W , Tarasova , Y , Phu , W , Grant , R , Yohannes , M T , Koenig , Z , Farjoun , Y , Banks , E , Donnelly , S , Gabriel , S , Gupta , N ....

مصطلحات موضوعية: Computational biology and bioinformatics, DNA sequencing, Evolutionary genetics, Genetic variation, Genotype

العلاقة: https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest

الإتاحة: https://doi.org/10.1038/s41586-024-07050-7Test
https://hdl.handle.net/11370/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
http://www.scopus.com/inward/record.url?scp=85182477492&partnerID=8YFLogxKTest

المؤلفون: Bick, Alexander G., Metcalf, Ginger A., Mayo, Kelsey R., Lichtenstein, Lee, Rura, Shimon, Carroll, Robert J., Musick, Anjene, Linder, Jodell E., Jordan, I. King, Nagar, Shashwat Deepali, Sharma, Shivam, Meller, Robert, Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S., Doheny, Kimberly F., Eichler, Evan E., Gabriel, Stacey, Gibbs, Richard A., Glazer, David, Harris, Paul A., Jarvik, Gail P., Philippakis, Anthony, Rehm, Heidi L., Roden, Dan M., Thibodeau, Stephen N., Topper, Scott, Blegen, Ashley L., Wirkus, Samantha J., Wagner, Victoria A., Meyer, Jeffrey G., Muzny, Donna M., Venner, Eric, Mawhinney, Michelle Z., Griffith, Sean M. L., Hsu, Elvin, Ling, Hua, Adams, Marcia K., Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L., Murugan, Mullai, Dugan, Shannon, Khan, Ziad, Lennon, Niall J., Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, Larsson, Katie, McDonough, Sheli, Harrison, Steven M., Kachulis, Christopher, Lebo, Matthew S., Neben, Cynthia L., Steeves, Marcie, Zhou, Alicia Y., Smith, Joshua D., Frazar, Christian D., Davis, Colleen P., Patterson, Karynne E., Wheeler, Marsha M., McGee, Sean, Lockwood, Christina M., Shirts, Brian H., Pritchard, Colin C., Murray, Mitzi L., Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A., Buchan, Jillian G., Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W., Schwartz, Sophie, Aster, M. Morgan T., Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Shergill, Akum, Gauthier, Laura D., Lee, Samuel K., Hatcher, Aaron, Grant, George B., Brandt, Genevieve R., Covarrubias, Miguel, Able, Ashley, Green, Ashley E., Zhang, Jennifer, Condon, Henry R., Wang, Yuanyuan, Dillon, Moira K., Albach, C. H., Baalawi, Wail, Choi, Seung Hoan, Wang, Xin, Rosenthal, Elisabeth A., Ramirez, Andrea H., Lim, Sokny, Nambiar, Siddhartha, Ozenberger, Bradley, Wise, Anastasia L., Lunt, Chris, Ginsburg, Geoffrey S., Denny, Joshua C.

مصطلحات موضوعية: Multidisciplinary

وصف الملف: application/pdf

العلاقة: Nature; The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature (2024). https://doi.org/10.1038/s41586-023-06957-xTest; https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37377782Test

الإتاحة: https://doi.org/10.1038/s41586-023-06957-xTest
https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37377782Test

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, Loos, Ruth J.F., Karczewski, Konrad J.

المصدر: Chen , S , Francioli , L C , Goodrich , J K , Collins , R L , Kanai , M , Wang , Q , Alföldi , J , Watts , N A , Vittal , C , Gauthier , L D , Poterba , T , Wilson , M W , Tarasova , Y , Phu , W , Grant , R , Yohannes , M T , Koenig , Z , Farjoun , Y , Banks , E , Donnelly , S , Gabriel , S , Gupta , N , Ferriera , S , ....

الإتاحة: https://doi.org/10.1038/s41586-023-06045-0Test
https://curis.ku.dk/portal/da/publications/a-genomic-mutational-constraint-map-using-variation-in-76156-human-genomesTest(1c222f4f-def3-4e56-b9bc-ce77d2f40153).html