NOVEL USE OF NEXT-GENERATION SEQUENCING FOR DIAGNOSIS AND DETECTION OF RARE CF VARIANTS VIA NEWBORN SCREENING

被引：0
|
作者：
Kirschner, La Pean A. [1 ,2 ]
Antos, N. J. [1 ,2 ]
Mochal, S. [3 ]
Moon, J. [3 ]
Baker, M. [3 ,4 ]
机构：
[1] Med Coll Wisconsin, Milwaukee, WI 53226 USA
[2] Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA
[3] Wisconsin State Lab Hyg, Madison, WI USA
[4] Univ Wisconsin, Dept Pediat, Madison, WI USA
来源：
PEDIATRIC PULMONOLOGY | 2017年 / 52卷
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
160
引用
收藏
页码：S272 / S272
页数：1
相关论文
共 50 条
  • [1] Large-scale detection of rare variants via pooled multiplexed next-generation sequencing: towards next-generation Ecotilling
    Marroni, Fabio
    Pinosio, Sara
    Di Centa, Eleonora
    Jurman, Irena
    Boerjan, Wout
    Felice, Nicoletta
    Cattonaro, Federica
    Morgante, Michele
    [J]. PLANT JOURNAL, 2011, 67 (04): : 736 - 745
  • [2] Next-Generation Sequencing in Newborn Screening: A Review of Current State
    Remec, Ziga I.
    Trebusak Podkrajsek, Katarina
    Repic Lampret, Barbka
    Kovac, Jernej
    Groselj, Urh
    Tesovnik, Tine
    Battelino, Tadej
    Debeljak, Marusa
    [J]. FRONTIERS IN GENETICS, 2021, 12
  • [3] Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing
    Ruiz-Schultz, Nicole
    Asay, Bryce
    Rohrwasser, Andreas
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2021, 7 (04)
  • [4] Ethical implications of next-generation sequencing and the future of newborn screening
    White-Corey, Shelley
    Peck, Jessica L.
    Perez, Rosa, I
    [J]. JOURNAL OF THE AMERICAN ASSOCIATION OF NURSE PRACTITIONERS, 2021, 33 (07) : 492 - 495
  • [5] Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening
    Murdock, David R.
    Donovan, Frank X.
    Chandrasekharappa, Settara C.
    Banks, Nicole
    Bondy, Carolyn
    Muenke, Maximilian
    Kruszka, Paul
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2017, 102 (05): : 1529 - 1537
  • [6] Can Next-Generation Sequencing Replace Sanger Sequencing for Screening Genetic Variants?
    Kawashiri, Masa-aki
    Nomura, Akihiro
    Konno, Tetsuo
    Hayashi, Kenshi
    [J]. CIRCULATION JOURNAL, 2014, 78 (12) : 2845 - 2847
  • [7] Neurocysticercosis: diagnosis via metagenomic next-generation sequencing
    Pedrosa, Denison Alves
    Bruniera, Gustavo Peres Fernandes
    Godoy, Luis Filipe de Souza
    Felicio, Andre C.
    Pinho, Joao Rebello
    Doi, Andre Mario
    Gleizer, Rene de Araujo
    [J]. PRACTICAL NEUROLOGY, 2023, 23 (06) : 509 - 511
  • [8] Leishmaniasis Diagnosis via Metagenomic Next-Generation Sequencing
    Chen, Hongbin
    Fan, Chunhong
    Gao, Hua
    Yin, Yuyao
    Wang, Xiaojuan
    Zhang, Yawei
    Wang, Hui
    [J]. FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY, 2020, 10
  • [9] Large-scale detection of rare variants via pooled multiplexed next-generation sequencing: towards next-generation Ecotilling (vol 67, pg 736, 2011)
    Marroni, F.
    Pinosio, S.
    Di Centa, E.
    Jurman, I
    Boerjan, W.
    Felice, N.
    Cattonaro, F.
    Morgante, M.
    [J]. PLANT JOURNAL, 2012, 69 (03): : 564 - 564
  • [10] Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors
    Ahmed, Atif A.
    Vundamati, Divya
    Farooqi, Midhat
    Repnikova, Elena
    Zinkus, Timothy
    Hetherington, Maxine
    Paulson, Lorien
    [J]. ENT-EAR NOSE & THROAT JOURNAL, 2021, 100 (05) : NP263 - NP268
12345