Research Topics
| Curt ScharfeSummaryAffiliation: Stanford University Country: USA Publications
| Collaborators
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Detail Information
Publications
Mapping gene associations in human mitochondria using clinical disease phenotypesCurt Scharfe
Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA
PLoS Comput Biol 5:e1000374. 2009..The accompanying knowledgebase (http://www.mitophenome.org/) supports the study of clinical diseases and associated genes...
High-quality DNA sequence capture of 524 disease candidate genesPeidong Shen
Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA
Proc Natl Acad Sci U S A 108:6549-54. 2011..This shows the ability of LPPs to accurately preserve a sample's genome information and provides a cost-effective strategy to identify both single nucleotide changes and structural variants in targeted resequencing...
Systematic screen for human disease genes in yeastLars M Steinmetz
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
Nat Genet 31:400-4. 2002..To apply these advantages to human disorders involving mitochondria, human orthologs were identified and linked to heritable diseases using genomic map positions...
SRMA: an R package for resequencing array data analysisNianxiang Zhang
Department of Bioinformatics and Computational Biology, UT MD Anderson Cancer Center, Houston, TX 77030, USA
Bioinformatics 28:1928-30. 2012..AVAILABILITY: http://cran.r-project.org/, http://odin.mdacc.tmc.edu/~wwang7/SRMAIndex.html..
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencingWenyi Wang
Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA
Nucleic Acids Res 39:44-58. 2011..Some patients carried rare heterozygous variants in several functionally interacting genes, which could indicate synergistic genetic effects in these clinically similar disorders...
