PMC:4156421 / 4536-5549
Annnotations
2_test
{"project":"2_test","denotations":[{"id":"25192356-21478889-90446710","span":{"begin":633,"end":635},"obj":"21478889"},{"id":"25192356-20644199-90446711","span":{"begin":638,"end":640},"obj":"20644199"},{"id":"25192356-19684571-90446712","span":{"begin":685,"end":687},"obj":"19684571"}],"text":"Tissue samples were obtained postmortem from the unembalmed cadaver. A cube of liver tissue approximately 1 cm on a side was dissected from the liver and frozen at −80°C to be used in the preparation of DNA for sequencing. 17 µg of genomic DNA was extracted using Qiagen DNeasy Blood \u0026 Tissue Kit from this sample. Shotgun sequencing libraries were prepared using the KAPA library preparation kit (Kapa Biosystems) following manufacturer's instructions. DNA was sequenced on an Illumina HiSeq 2000 with paired-end 100 bp reads. The raw sequence data was mapped to hg19/GRCh37 and variants were called with GATK using best practices [17]–[19]. Variants were annotated using SeattleSeq [20]. Allele frequencies for the European-American population were derived from the University of Washington Genome Variation Server (http://gvs.gs.washington.edu). Findings discussed in the manuscript were manually evaluated by verifying read data using the Integrative Genomics Viewer (IGV, http://www.broadinstitute.org/igv/)."}