Ontology highlight
ABSTRACT:
SUBMITTER: Peng G
PROVIDER: S-EPMC3593912 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Peng Gang G Fan Yu Y Palculict Timothy B TB Shen Peidong P Ruteshouser E Cristy EC Chi Aung-Kyaw AK Davis Ronald W RW Huff Vicki V Scharfe Curt C Wang Wenyi W
Proceedings of the National Academy of Sciences of the United States of America 20130220 10
Next-generation sequencing is revolutionizing genomic analysis, but this analysis can be compromised by high rates of missing true variants. To develop a robust statistical method capable of identifying variants that would otherwise not be called, we conducted sequence data simulations and both whole-genome and targeted sequencing data analysis of 28 families. Our method (Family-Based Sequencing Program, FamSeq) integrates Mendelian transmission information and raw sequencing reads. Sequence ana ...[more]