Ontology highlight
ABSTRACT:
SUBMITTER: Ng SB
PROVIDER: S-EPMC2847889 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Ng Sarah B SB Buckingham Kati J KJ Lee Choli C Bigham Abigail W AW Tabor Holly K HK Dent Karin M KM Huff Chad D CD Shannon Paul T PT Jabs Ethylin Wang EW Nickerson Deborah A DA Shendure Jay J Bamshad Michael J MJ
Nature genetics 20091113 1
We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40x and sufficient depth to call variants at approximately 97% of each targeted exome. Filtering against public SNP databases and eight HapMap exomes for genes with two previously unknown variants in each of t ...[more]