Diagnostic Clinical Genome and Exome Sequencing

被引：0
|
作者：
Biesecker, Leslie G. [1 ]
Green, Robert C. [2 ]
机构：
[1] NHGRI, Bethesda, MD 20892 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2014年 / 371卷 / 12期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1170 / 1170
页数：1
相关论文
共 50 条
  • [1] Diagnostic Clinical Genome and Exome Sequencing
    Biesecker, Leslie G.
    Green, Robert C.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (25): : 2418 - 2425
  • [2] Ending the diagnostic odyssey by clinical whole exome / genome sequencing (CWEW/CWGS)
    Law, C.
    Lam, C.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 215 - 216
  • [3] Diagnostic value of exome and whole genome sequencing in craniosynostosis
    Miller, Kerry A.
    Twigg, Stephen R. F.
    McGowan, Simon J.
    Phipps, Julie M.
    Fenwick, Aimee L.
    Johnson, David
    Wall, Steven A.
    Noons, Peter
    Rees, Katie E. M.
    Tidey, Elizabeth A.
    Craft, Judith
    Taylor, John
    Taylor, Jenny C.
    Goos, Jacqueline A. C.
    Swagemakers, Sigrid M. A.
    Mathijssen, Irene M. J.
    van der Spek, Peter J.
    Lord, Helen
    Lester, Tracy
    Abid, Noina
    Cilliers, Deirdre
    Hurst, Jane A.
    Morton, Jenny E. V.
    Sweeney, Elizabeth
    Weber, Astrid
    Wilson, Louise C.
    Wilkie, Andrew O. M.
    [J]. JOURNAL OF MEDICAL GENETICS, 2017, 54 (04) : 260 - 268
  • [4] Diagnostic yield and clinical utility of clinical exome sequencing
    Narravula, A.
    Kienle, N.
    Hoevel, I.
    Romito, A.
    Bertoli-Avella, A.
    Yuksel, Z.
    Paknia, O.
    Nampoothiri, S.
    Hadipour, Z.
    Hadipour, F.
    Oprea, G.
    Kishore, S.
    Bauer, P.
    Rolfs, A.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 498 - 499
  • [5] CLINICAL VALUE OF DIAGNOSTIC WHOLE GENOME/EXOME SEQUENCING IN FAMILIAL AUTISM SPECTRUM DISORDER
    Alkelai, Anna
    Greenbaum, Lior
    Povysil, Gundula
    Malakar, Ayan
    Pras, Elon
    Goldstein, David
    [J]. EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2021, 51 : E154 - E154
  • [6] Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
    Smith, Hadley Stevens
    Swint, J. Michael
    Lalani, Seema R.
    Yamal, Jose-Miguel
    Otto, Marcia C. de Oliveira
    Castellanos, Stephan
    Taylor, Amy
    Lee, Brendan H.
    Russell, Heidi V.
    [J]. GENETICS IN MEDICINE, 2019, 21 (01) : 3 - 16
  • [7] Clinical application of whole exome and clinical exome sequencing as a diagnostic tool in Colombian population
    Munoz-Bolanos, A. J.
    Maradei, S. J.
    Bernal, I. T.
    Gomez, Y. M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 713 - 713
  • [8] Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care
    Klein, Hanns-Georg
    Bauer, Peter
    Hambuch, Tina
    [J]. LABORATORIUMSMEDIZIN-JOURNAL OF LABORATORY MEDICINE, 2014, 38 (04): : 221 - 230
  • [9] Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice
    Tumiene, B.
    Maver, A.
    Writzl, K.
    Hodzic, A.
    Cuturilo, G.
    Kuzmanic-Samija, R.
    Culic, V.
    Peterlin, B.
    [J]. CLINICAL GENETICS, 2018, 93 (05) : 1057 - 1062
  • [10] DIAGNOSTIC OUTCOMES AND RELATIVE COST OF CLINICAL WHOLE EXOME SEQUENCING
    Ruzhnikov, M. R.
    Alsadah, A.
    Mendelsohn, B.
    Alhariri, A.
    Cilio, M. R.
    Wu, Y.
    Marco, E. J.
    Hsiao, E.
    Sullivan, J.
    Shieh, J.
    Slavotinek, A.
    Sherr, E. H.
    [J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2016, 64 (01) : 247 - 247
12345