Disease genetics: Whole-genome sequencing identifies Mendelian mutations

Nature Reviews Genetics

Volumn 11, Issue 5, 2010, Pages 313-

  Swami, Meera ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLESTERASE; DIHYDROOROTATE DEHYDROGENASE; DYNEIN ADENOSINE TRIPHOSPHATASE;

ALGORITHM; ARTICLE; CILIARY DYSKINESIA; DYSKINESIA; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GENOME ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MILLER FINEMAN SMITH SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIMARY CILIARY DYSKINESIA; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77951107303     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2783     Document Type: Article

References (3)

1. ORIGINAL RESEARCH PAPERS Roach, J. C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 10 Mar 2010 (doi: 10.1126/science.1186802)
2. Lupski, J. R. et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 10 Mar 2010 (doi:10.1056/NEJMoa0908094)
3. FURTHER READING Frazer, K. A. et al. Human genetic variation and its contribution to complex traits. Nature Rev. Genet. 10, 241-251 (2009)