Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Author:

Ewans Lisa J.,Schofield Deborah,Shrestha Rupendra,Zhu Ying,Gayevskiy Velimir,Ying Kevin,Walsh Corrina,Lee Eric,Kirk Edwin P,Colley Alison,Ellaway Carolyn,Turner Anne,Mowat David,Worgan Lisa,Freckmann Mary-Louise,Lipke Michelle,Sachdev Rani,Miller David,Field Michael,Dinger Marcel E.,Buckley Michael F.,Cowley Mark J,Roscioli Tony

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference40 articles.

1. World Health Organization. Genes and human disease. http://www.who.int/genomics/public/geneticdiseases/en/index2.html. Accessed 22 March 2015.

2. Central Intelligence Agency. The World Factbook. 2016. https://www.cia.gov/library/publications/the-world-factbook/geos/xx.html; Accessed 22 March 2018.

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