المؤلفون: Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V, Mikheenko, Alla, Vollger, Mitchell R, Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J, Diekhans, Mark, Logsdon, Glennis A, Alonge, Michael, Antonarakis, Stylianos E, Borchers, Matthew, Bouffard, Gerard G, Brooks, Shelise Y, Caldas, Gina V, Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G, Dishuck, Philip C, Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T, Formenti, Giulio, Fulton, Robert S, Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick GS, Graves-Lindsay, Tina A, Hall, Ira M, Hansen, Nancy F, Hartley, Gabrielle A, Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W, Jain, Chirag, Jain, Miten, Jarvis, Erich D, Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V, Marschall, Tobias, McCartney, Ann M, McDaniel, Jennifer, Miller, Danny E, Mullikin, James C, Myers, Eugene W, Olson, Nathan D, Paten, Benedict, Peluso, Paul, Pevzner, Pavel A, Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I, Rosenfeld, Jeffrey A, Salzberg, Steven L, Schneider, Valerie A, Sedlazeck, Fritz J, Shafin, Kishwar, Shew, Colin J, Shumate, Alaina, Sims, Ying, Smit, Arian FA, Soto, Daniela C, Sović, Ivan, Storer, Jessica M, Streets, Aaron, Sullivan, Beth A, Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P, Wenger, Aaron, Wood, Jonathan MD, Xiao, Chunlin, Yan, Stephanie M, Young, Alice C, Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C, Dennis, Megan Y, Alexandrov, Ivan A, Gerton, Jennifer L, O’Neill, Rachel J, Timp, Winston, Zook, Justin M, Schatz, Michael C, Eichler, Evan E, Miga, Karen H, Phillippy, Adam M

المصدر: Science. 376(6588)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Cell Line, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Genome, Human, Human Genome Project, Humans, Reference Values, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4hh2h517Test
https://escholarship.org/content/qt4hh2h517/qt4hh2h517.pdfTest

المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

المصدر: Genetics. 217(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/15562671Test

المؤلفون: Miga, Karen H, Koren, Sergey, Rhie, Arang, Vollger, Mitchell R, Gershman, Ariel, Bzikadze, Andrey, Brooks, Shelise, Howe, Edmund, Porubsky, David, Logsdon, Glennis A, Schneider, Valerie A, Potapova, Tamara, Wood, Jonathan, Chow, William, Armstrong, Joel, Fredrickson, Jeanne, Pak, Evgenia, Tigyi, Kristof, Kremitzki, Milinn, Markovic, Christopher, Maduro, Valerie, Dutra, Amalia, Bouffard, Gerard G, Chang, Alexander M, Hansen, Nancy F, Wilfert, Amy B, Thibaud-Nissen, Françoise, Schmitt, Anthony D, Belton, Jon-Matthew, Selvaraj, Siddarth, Dennis, Megan Y, Soto, Daniela C, Sahasrabudhe, Ruta, Kaya, Gulhan, Quick, Josh, Loman, Nicholas J, Holmes, Nadine, Loose, Matthew, Surti, Urvashi, Risques, Rosa ana, Graves Lindsay, Tina A, Fulton, Robert, Hall, Ira, Paten, Benedict, Howe, Kerstin, Timp, Winston, Young, Alice, Mullikin, James C, Pevzner, Pavel A, Gerton, Jennifer L, Sullivan, Beth A, Eichler, Evan E, Phillippy, Adam M

المصدر: Nature. 585(7823)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Bioengineering, Nanotechnology, Human Genome, Generic health relevance, Centromere, Chromosomes, Human, X, CpG Islands, DNA Methylation, DNA, Satellite, Female, Genome, Human, Humans, Hydatidiform Mole, Male, Pregnancy, Reproducibility of Results, Telomere, Testis, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/88w7j3n7Test
https://escholarship.org/content/qt88w7j3n7/qt88w7j3n7.pdfTest

المؤلفون: Peterson, Jess F, Aggarwal, Nidhi, Smith, Clayton A, Gollin, Susanne M, Surti, Urvashi, Rajkovic, Aleksandar, Swerdlow, Steven H, Yatsenko, Svetlana A

المصدر: Oncotarget. 6(22)

مصطلحات موضوعية: Prevention, Hematology, Genetics, Biotechnology, Cancer, Genetic Testing, Human Genome, Clinical Research, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Chromosome Aberrations, Chromosome Banding, Comparative Genomic Hybridization, Cytogenetic Analysis, DNA Copy Number Variations, Hematologic Neoplasms, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Translocation, Genetic, chromosome section, hematological malignancies, microarray, diagnosis, array CGH, Chromosome Section, Oncology and Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/32k7h2kxTest

المؤلفون: Mittal, Priya, Shin, Yong-hyun, Yatsenko, Svetlana A, Castro, Carlos A, Surti, Urvashi, Rajkovic, Aleksandar

المصدر: Journal of Clinical Investigation. 125(8)

مصطلحات موضوعية: Genetics, Human Genome, Contraception/Reproduction, Fibroid Tumors (Uterine), 2.1 Biological and endogenous factors, Aetiology, Amino Acid Substitution, Animals, Chromosome Aberrations, Female, Genomic Instability, Humans, Leiomyoma, Mediator Complex, Mice, Mice, Transgenic, Mutation, Missense, Neoplasm Proteins, Neoplasms, Experimental, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2cx886n7Test

المؤلفون: Peters, David G, Yatsenko, Svetlana A, Surti, Urvashi, Rajkovic, Aleksandar

المصدر: Seminars in Perinatology. 39(1)

مصطلحات موضوعية: Paediatrics, Reproductive Medicine, Biomedical and Clinical Sciences, Human Genome, Pediatric, Genetics, Biotechnology, Genetic Testing, Reproductive health and childbirth, Aneuploidy, Female, Genetic Counseling, Humans, In Situ Hybridization, Fluorescence, Pregnancy, Prenatal Diagnosis, Prenatal diagnosis, chromosome abnormality, NIPT, microarray, genetic testing, next-generation sequencing, non-invasive prenatal testing, Clinical Sciences, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Reproductive medicine, Midwifery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6vc9h590Test

المؤلفون: Chaisson, Mark JP, Huddleston, John, Dennis, Megan Y, Sudmant, Peter H, Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M, Stamatoyannopoulos, John A, Hunkapiller, Michael W, Korlach, Jonas, Eichler, Evan E

المصدر: Nature. 517(7536)

مصطلحات موضوعية: Genetics, Human Genome, Generic health relevance, Chromosome Inversion, Chromosomes, Human, Pair 10, Cloning, Molecular, GC Rich Sequence, Genetic Variation, Genome, Human, Genomics, Haploidy, Humans, Mutagenesis, Insertional, Reference Standards, Sequence Analysis, DNA, Tandem Repeat Sequences, General Science & Technology

الوصول الحر: https://escholarship.org/uc/item/78k994t1Test

المؤلفون: AlAsiri, Saleh, Basit, Sulman, Wood-Trageser, Michelle A, Yatsenko, Svetlana A, Jeffries, Elizabeth P, Surti, Urvashi, Ketterer, Deborah M, Afzal, Sibtain, Ramzan, Khushnooda, Haque, Muhammad Faiyaz-Ul, Jiang, Huaiyang, Trakselis, Michael A, Rajkovic, Aleksandar

المصدر: Journal of Clinical Investigation. 125(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosomal Instability, Consanguinity, DNA Repair, Exome, Female, Genetic Association Studies, Genetic Predisposition to Disease, HEK293 Cells, Humans, Lod Score, Middle Aged, Minichromosome Maintenance Proteins, Pedigree, Polymorphism, Single Nucleotide, Primary Ovarian Insufficiency, Protein Binding, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7d05j59vTest

المؤلفون: Wood-Trageser, Michelle A, Gurbuz, Fatih, Yatsenko, Svetlana A, Jeffries, Elizabeth P, Kotan, L Damla, Surti, Urvashi, Ketterer, Deborah M, Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Trakselis, Michael A, Topaloglu, A Kemal, Rajkovic, Aleksandar

المصدر: American Journal of Human Genetics. 95(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Abnormal Karyotype, Adolescent, Adult, Amenorrhea, Base Sequence, Cell Line, Chromosomal Instability, Consanguinity, DNA Breaks, Double-Stranded, DNA Repair, Dwarfism, Exome, Female, Homologous Recombination, Homozygote, Humans, Middle Aged, Minichromosome Maintenance Proteins, Molecular Sequence Data, Mutation, Pedigree, Polymorphism, Single Nucleotide, Primary Ovarian Insufficiency, RNA Splice Sites, Sequence Analysis, DNA, Young Adult, 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/8h7922r1Test

المؤلفون: Liao, Jun, Coffman, Keith A., Locker, Joseph, Padiath, Quasar S., Nmezi, Bruce, Filipink, Robyn A., Hu, Jie, Sathanoori, Malini, Madan‐Khetarpal, Suneeta, McGuire, Marianne, Schreiber, Allison, Moran, Rocio, Friedman, Neil, Hoffner, Lori, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Surti, Urvashi

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 4 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1647Test