Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-09-23 , DOI: 10.1002/mgg3.1508
Natalie B Tan _{1,

2,

3} , Rachel Stapleton ₁ , Zornitza Stark _{1,

2} , Martin B Delatycki _{1,

2} , Alison Yeung _{1,

4,

5} , Matthew F Hunter _{4,

5} , David J Amor _{2,

3,

6} , Natasha J Brown _{1,

2,

6,

7} , Chloe A Stutterd _{1,

7} , George McGillivray ₁ , Patrick Yap _{8,

9} , Matthew Regan _{4,

5} , Belinda Chong ₁ , Miriam Fanjul Fernandez _{1,

2} , Justine Marum ₁ , Dean Phelan ₁ , Lynn S Pais ₁₀ , Susan M White _{1,

2} , Sebastian Lunke _{1,

11} , Tiong Y Tan _{1,

2}

Affiliation

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Monash Genetics, Monash Health, Clayton, VIC, Australia.
Department of Paediatrics, Monash University, Clayton, VIC, Australia.
Royal Children's Hospital, Parkville, VIC, Australia.
Austin Health Clinical Genetics Service, Heidelberg, VIC, Australia.
Genetic Health Service NZ, Auckland, New Zealand.
Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Department of Pathology, The University of Melbourne, Parkville, VIC, Australia.

Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases.

中文翻译：