Richard A Gibbs
Affiliation: Baylor College of Medicine
- Rustagi N, Zhou A, Watkins W, Gedvilaite E, Wang S, Ramesh N, et al. Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. BMC Genomics. 2017;18:396 pubmed publisher..In addition, the South Indian EXL-WGS data generated in this study will provide a valuable resource for future Indian genomic studies. ..
- Wong E, Papenfuss A, Heger A, Hsu A, Ponting C, Miller R, et al. Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby. BMC Genomics. 2011;12:420 pubmed publisher..Here, we used pyrosequencing to compare the transcriptomes of a cervical and thoracic thymus from a single 178 day old tammar wallaby...
- Liu Y, Qin X, Song X, Jiang H, Shen Y, Durbin K, et al. Bos taurus genome assembly. BMC Genomics. 2009;10:180 pubmed publisher..0 assembly, confirming the accuracy of the assembly. The biological analysis of this bovine genome assembly is being published, and the sequence data is available to support future bovine research. ..
- Larsen P, Harris R, Liu Y, Murali S, Campbell C, Brown A, et al. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017;15:110 pubmed publisher..Our results show that emerging genomic technologies can be used in combination to characterize centromeres of non-model species and to produce accurate de novo chromosome-scale genome assemblies of complex mammalian genomes. ..
- Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, et al. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18:147 pubmed publisher..SeqCNV is able to robustly identify CNVs of different size using capture NGS data. Compared with other CNV-calling methods, SeqCNV shows a significant improvement in both sensitivity and specificity. ..
- Xia F, Bainbridge M, Tan T, Wangler M, Scheuerle A, Zackai E, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014;94:784-9 pubmed publisher..Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. ..