PMC:4129401 / 6667-7985 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4129401","sourcedb":"PMC","sourceid":"4129401","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4129401","text":"Exome Sequencing and Variant Identification\nA SOLiD4 sequencing platform (Life Technologies) was utilized for WES in 12 CRD- or COD-affected probands from families with suspected autosomal-recessive inheritance, and the exomes were enriched according to the manufacturer’s protocol with the use of the SureSelect Human All Exon v.2 Kit (50 Mb), containing the exonic sequences of approximately 21,000 genes (Agilent Technologies). LifeScope software v.2.1 (Life Technologies) was used for mapping color space reads along the hg19 reference genome assembly (UCSC Genome Browser). Single-nucleotide variants were called by high-stringency calling with the DiBayes algorithm. Small insertions and deletions were detected with the SOLiD Small Indel Tool (Life Technologies). For individual A-II:1, 69,686,646 reads were uniquely mapped to the gene-coding regions; median coverage was 58.2×, and there were 44,784 sequence variants. For proband B-II:1, 75,493,298 reads were uniquely mapped to the gene-coding regions; median coverage was 66.7×, and there were 47,304 sequence variants. For validating the WES sequence variants and excluding the presence of other POC1B mutations, all coding exons and exon-intron boundaries of POC1B were amplified with primers designed with Primer 3 software (Table S1, available online).","divisions":[{"label":"title","span":{"begin":0,"end":43}}],"tracks":[]}