Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

Lupski JR;Reid JG;Gonzaga-Jauregui C;Rio Deiros D;Chen DC;Nazareth L;Bainbridge M;Dinh H;Jing C;Wheeler DA;McGuire AL;Zhang F;Stankiewicz P;Halperin JJ;Yang C;Gehman C;Guo D;Irikat RK;Tom W;Fantin NJ;Muzny DM;Gibbs RA;;
The New England journal of medicine 2010 Vol. 362 pp. -
269
jr2010thewhole-genome

Abstract

As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.

Keywords

National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support adult female male N.I.H. Extramural aged middle aged codon 80 and over DNA Genes Sequence Analysis genome phenotype Genotype Polymorphism mutation single nucleotide pedigree human* pmid:20220177 pmc4036802 doi:10.1056/nejmoa0908094 james r lupski jeffrey g reid richard a gibbs charcot-marie-tooth disease / genetics* nonsense recessive genetic association studies* missense

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http://www.ncbi.nlm.nih.gov/pubmed/20220177

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