In order to dissect these defects, we utilize a unique approach including deep assessment of patient phenotype, clinical genetic testing to identify underlying genetic contributions to these features, and the application of combinatorial
functional omics (transcriptome, metabolome, etc.) to uncover the pathological cellular states that result from these genetic changes.
Not exact matches
The new approach was developed by the
Functional Annotation of the Mammalian Genome (FANTOM) international consortium, organized by RIKEN
Omics Science Center in Yokohama, Japan.
This HDG genome represented the most complete de novo genome assembly to date, and with other
omics data resources available from this individual, the work can be used as a benchmark for developing new sequencing and assembly techniques, and for
functional studies involving RNA or protein analysis.
-- In silico basic and systems biology: We develop innovative approaches to reverse engineer biological networks from
omics data, model tumor progression at the genomic, transcriptomic and epigenetic level, automatically annotate new proteins and
functional elements through integration of complex and heterogeneous data, including data obtained from high - throughput sequencing or time - lapse video - microscopy.
He is interested in elucidating mechanisms of human disease by exploring the
functional effects of genetic variation through computational analysis of «-
omic» sequencing data.
Robust automatic breast cancer staging using a combination of
functional genomics and image -
omics.
This is ideal for
functional validation of discoveries / hits from large - scale
omics projects in human cells.
288/5: 45 Integration of
functional «
omics» data uncovers mitochondrial deficiency in Smith - Magenis syndrome.