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: Hehir-Kwa, Jayne Y, Marschall, Tobias, Kloosterman, Wigard P, Francioli, Laurent C, Baaijens, Jasmijn A, Dijkstra, Louis J, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P, Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Genome of the Netherlands Consortium, Uitterlinden, André G, van Duijn, Cornelia M, Eichler, Evan E, de Bakker, Paul IW, Swertz, Morris A, Wijmenga, Cisca, van Ommen, Gert-Jan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Ye, Kai, Guryev, Victor

المصدر: Nature communications. 7(1)

مصطلحات موضوعية: Genome of the Netherlands Consortium, Chromosomes, Humans, RNA, Polymerase Chain Reaction, Sequence Analysis, DNA, Sequence Analysis, RNA, Computational Biology, Genomics, Gene Deletion, Genotype, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome, Human, Algorithms, Software, Netherlands, INDEL Mutation, Genomic Structural Variation, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genome, Human

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/54n4z1k5Test

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: gnomAD Project Consortium, Guo, Michael H., Francioli, Laurent C., Stenton, Sarah L, Goodrich, Julia K., Watts., Nicholas A., Singer-Berk, Moriel, Groopman, Emily, Darnowsky, Philip W., Solomonson, Matthew, Baxter, Samantha, Tiao, Grace, Neale, Benjamin M., Hirschhorn, Joel N., Rehm, Heidi L., Daly, Mark J., O'Donnell-Luria, Anne, Karczewski, Konrad J., MacArthur, Daniel G., Samocha, Kaitlin E

وصف الملف: metadataOnly; 152-161

العلاقة: Nature genetics; 56; https://www.julkari.fi/handle/10024/148944Test

الإتاحة: https://www.julkari.fi/handle/10024/148944Test

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

المؤلفون: De Kraker, Marlieke, Tartari, Ermira, Tomczyk, Sara Marie, Twyman, Anthony, Francioli, Laurent C, Cassini, Alessandro, Allegranzi, Benedetta, Pittet, Didier

المصدر: ISSN: 1473-3099 ; Lancet. Infectious diseases, vol. 22, no. 6 (2022) p. 835-844.

مصطلحات موضوعية: info:eu-repo/classification/ddc/613, info:eu-repo/classification/ddc/616

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35202600; https://archive-ouverte.unige.ch/unige:162611Test; unige:162611

الإتاحة: https://doi.org/10.1016/S1473-3099Test(21)00618-6
https://archive-ouverte.unige.ch/unige:162611Test

المؤلفون: de Kraker, Marlieke E. A., Tartari, Ermira, Tomczyk, Sara, Twyman, Anthony, Francioli, Laurent C., Cassini, Alessandro, Allegranzi, Benedetta, Pittet, Didier

مصطلحات موضوعية: 610 Medizin und Gesundheit, ddc:610

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1016Test/ S1473-3099(21)00618-6; http://edoc.rki.de/176904/9674Test; urn:nbn:de:0257-176904/9674-1

الإتاحة: http://edoc.rki.de/176904/9674Test
https://nbn-resolving.org/urn:nbn:de:0257-176904/9674-1Test

المؤلفون: de Kraker, Marlieke E A, Tartari, Ermira, Tomczyk, Sara, Twyman, Anthony, Francioli, Laurent C, Cassini, Alessandro, Allegranzi, Benedetta, Pittet, Didier

المساهمون: Faculté de Médecine, Université de Genève, World Health Organization, Hôpitaux Universitaires de Genève

المصدر: The Lancet Infectious Diseases ; volume 22, issue 6, page 835-844 ; ISSN 1473-3099

الإتاحة: https://doi.org/10.1016/s1473-3099Test(21)00618-6
https://api.elsevier.com/content/article/PII:S1473309921006186?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1473309921006186?httpAccept=text/plainTest

المؤلفون: Palamara, Pier Francesco, Francioli, Laurent C, Wilton, Peter R, Genovese, Giulio, Gusev, Alexander, Finucane, Hilary K, Sankararaman, Sriram, Consortium, Genome of the Netherlands, Sunyaev, Shamil R, de Bakker, Paul IW, Wakeley, John, Pe’er, Itsik, Price, Alkes L

المصدر: American Journal of Human Genetics. 97(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Biotechnology, Human Genome, Alleles, Gene Frequency, Genome, Human, Germ-Line Mutation, Haplotypes, Humans, INDEL Mutation, Linear Models, Models, Genetic, Mutation Rate, Recombination, Genetic, Genome of the Netherlands Consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/658133s8Test

المؤلفون: Kloosterman, Wigard P, Francioli, Laurent C, Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y, Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H, Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J, Arp, Pascal, Karssen, Lennart C, Coe, Bradley P, Handsaker, Robert E, Suchiman, Eka D, Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C, Consortium, Genome of the Netherlands, Uitterlinden, André, van Duijn, Cornelia M, Swertz, Morris A, Wijmenga, Cisca, van Ommen, GertJan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Eichler, Evan E, de Bakker, Paul IW, Ye, Kai, Guryev, Victor

المصدر: Genome Research. 25(6)

مصطلحات موضوعية: Genetics, Human Genome, Alleles, Amino Acid Sequence, Female, Genetic Variation, Genome, Human, Genomics, Haplotypes, Humans, INDEL Mutation, Male, Molecular Sequence Data, Mutation Rate, Polymorphism, Single Nucleotide, Retroelements, Sequence Alignment, Sequence Analysis, DNA, Genome of Netherlands Consortium, Biological Sciences, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1vz5t8mcTest