5 Result(s)
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Article
Open AccessBenefits for children with suspected cancer from routine whole-genome sequencing
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every ...
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Open AccessThe NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 1...
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Article
Correction: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author...
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Article
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenita...
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Article
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer
We examined the coding sequence of 518 protein kinases, ∼1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no somatic mutations. But a few had numerous somatic mutations with distinct...
