Richard A Gibbs


Affiliation: Baylor College of Medicine
Country: USA


  1. Bainbridge M, Davis E, Choi W, Dickson A, Martinez H, Wang M, et al. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015;8:544-52 pubmed publisher
    ..Together, our data expand the genetic spectrum of LVNC and demonstrate how the intersection of whole exome sequence with in vivo functional studies can accelerate the identification of genes that drive human genetic disorders. ..
  2. Murdock D, Jiang Y, Wangler M, Khayat M, Sabo A, Juusola J, et al. Xia-Gibbs Syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019;: pubmed publisher
    ..As more adults undergo genomic studies, we will continue to learn about the adult phenotypes of genetic conditions typically diagnosed in the pediatric setting. ..
  3. Sadd B, Barribeau S, Bloch G, de Graaf D, Dearden P, Elsik C, et al. The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015;16:76 pubmed publisher
    ..Overall, gene repertoires suggest that the route to advanced eusociality in bees was mediated by many small changes in many genes and processes, and not by notable expansion or depauperation. ..
  4. Pereira S, Gibbs R, McGuire A. Open access data sharing in genomic research. Genes (Basel). 2014;5:739-47 pubmed publisher
    ..We advocate instead a more balanced approach that allows for individual choice and encourages informed decision making, while protecting against the misuse of genomic data through enhanced legislation. ..
  5. Wang M, Beck C, English A, Meng Q, Buhay C, Han Y, et al. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015;16:214 pubmed publisher
    ..Other genomic research applications, such as haplotype phasing and small insertion and deletion validation could also benefit from this technology. ..
  6. English A, Salerno W, Hampton O, Gonzaga Jauregui C, Ambreth S, Ritter D, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015;16:286 pubmed publisher
    ..With the full Parliament infrastructure, the HS1011 data constitute a public resource for novel SV discovery, software calibration, and personal genome structural variation analysis. ..
  7. Challis D, Antunes L, Garrison E, Banks E, Evani U, Muzny D, et al. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics. 2015;16:143 pubmed publisher
    ..0%. In our study we further characterize the patterns and distributions of these exonic INDELs with respect to density, allele length, and site frequency spectrum, as well as the potential mutagenic mechanisms of coding INDELs in humans. ..
  8. Elsik C, Worley K, Bennett A, Beye M, Camara F, Childers C, et al. Finding the missing honey bee genes: lessons learned from a genome upgrade. BMC Genomics. 2014;15:86 pubmed publisher
    ..Furthermore, the improvements significantly enhance genomic resources for the honey bee, a key model for social behavior and essential to global ecology through pollination...
  9. Hampton O, English A, Wang M, Salerno W, Liu Y, Muzny D, et al. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017;18:691 pubmed publisher
    ..SVachra is a highly specific breakpoint calling program that exhibits a more unbiased SV detection methodology than other callers. ..

More Information


  1. 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. ..
  2. 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...
  3. 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. ..
  4. 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. ..
  5. 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. ..
  6. Reid J, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014;15:30 pubmed publisher
  7. 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. ..
  8. Schwager E, Sharma P, Clarke T, Leite D, Wierschin T, Pechmann M, et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017;15:62 pubmed publisher