Ontology highlight
ABSTRACT: The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing. The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: 147920) were obtained by massively parallel DNA sequencing.
PROVIDER: phs000295.v1.p1 | EGA |
REPOSITORIES: EGA
Ng Sarah B SB Bigham Abigail W AW Buckingham Kati J KJ Hannibal Mark C MC McMillin Margaret J MJ Gildersleeve Heidi I HI Beck Anita E AE Tabor Holly K HK Cooper Gregory M GM Mefford Heather C HC Lee Choli C Turner Emily H EH Smith Joshua D JD Rieder Mark J MJ Yoshiura Koh-Ichiro K Matsumoto Naomichi N Ohta Tohru T Niikawa Norio N Nickerson Deborah A DA Bamshad Michael J MJ Shendure Jay J
Nature genetics 20100815 9
We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the exomes of ten unrelated probands to massively parallel sequencing. After filtering against existing SNP databases, there was no compelling candidate gene containing previously unknown variants in all affected individuals. Less stringent filtering criteria allowed for the presence of modest genetic heterogeneity or missing data but al ...[more]