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Molecular Genomics Laboratory Core Facility

Forbes D. Porter, MD, PhD
  • Forbes D. Porter, MD, PhD, Molecular Genomics Laboratory Core Facility
  • Steven L. Coon, PhD, Staff Scientist
  • James R. Iben, PhD, Senior Research Fellow
  • Alan Pang, PhD, Biologist

With the goal of understanding genetic changes and mechanisms underlying human diseases, the Molecular Genomics Laboratory Core Facility supports NICHD investigators by providing deep sequencing and project data analysis.

Next-Generation sequencing and bioinformatics support

The Molecular Genomics Laboratory (MGL) provides DNA and RNA sequencing services for genomic and genetic research to investigators within the NICHD. The MGL is currently operating with an Applied Biosystems SOLiD 5500xl high capacity sequencer, and will soon bring an Ion Torrent Personal Genomics Machine online. Our services include whole exome, targeted exome and gene-specific DNA sequencing, as well as whole transcriptome sequencing (RNA-Seq), microRNA sequencing, microbiome sequencing, bisulfite sequencing (DNA methylome), ChIP-Seq, and ribosomal profiling. The MGL provides significant primary data processing and downstream bioinformatic support and can assist in designing experiments or sequencing strategies (for example, optimization of targeted exome design). During 2014, the MGL provided sequencing for 15 projects across the full spectrum of sequencing types; the projects involved 11 NICHD Principal Investigators. In addition to sequencing and providing our standard primary analysis of the resulting data, the MGL has delivered enhanced bioinformatic support for 13 NICHD investigators and 1 NICHD/NHGRI collaboration. Our mission is to offer accurate and innovative sequencing and bioinformatic tools to facilitate research into the diagnosis, counseling, and treatment of hereditary disorders.

Publications

  1. Iben JR, Maraia RJ. tRNA gene copy number variation in humans. Gene 2014;536:376-384.
  2. Cross JL, Iben J, Simpson C, Thurm A, Swedo S, Tierney E, Bailey-Wilson J, Biesecker LG, Porter FD, Wassif CA. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data Sets. Clin Genet 2014;E-pub ahead of print.
  3. Maraia RJ, Iben JR. Different types of secondary information in the genetic code [review]. RNA 2014;20:977-984.
  4. Ganguli D, Chereji RV, Iben JR, Cole HA, David J, Clark DJ. RSC-dependent constructive and destructive interference between opposing arrays of phased nucleosomes in yeast. Genome Res 2014;24:1637-1649.
  5. You X, Bian C, Zan Q, Liu X, Chen J, Wang J, Qiu Y, Li W, Zhang X, Sun Y, Chen S, Hong W, Li Y, Cheng S, Fan G, Shi C, Liang J, Tang YT, Yang C, Ruan Z, Bai J, Peng C, Mu Q, Lu J, Fan M, Yang S, Huang Z, Jiang X, Fang X, Zhang G, Zhang Y, Yu H, Li J, Liu Z, Zhang G, Ravi V, Coon SL, Wang J, Yang H, Venkatesh B, Xu X, Wang J, Shi Q. Mudskipper genomes provide insights into the terrestrial adaptation of amphibious fishes. Nature Commun 2014;in press.

Collaborators

  • Joan Bailey-Wilson, PhD, Computational and Statistical Genomics Branch, NHGRI, Baltimore, MD
  • David Clark, PhD, Program in Genomics of Differentiation, NICHD, Bethesda, MD
  • Robert Crouch, PhD, Program in Genomics of Differentiation, NICHD, Bethesda, MD
  • Alan DeCherney, MD, Program in Reproductive and Adult Endocrinology, NICHD, Bethesda, MD
  • Angela Delaney, MD, Program on Developmental Endocrinology and Genetics, NICHD, Bethesda, MD
  • Benjamin Feldman, PhD, Program on Genomics of Differentiation, NICHD, Bethesda, MD
  • Alan Hinnebusch, PhD, Program in Cellular Regulation and Metabolism, NICHD, Bethesda, MD
  • Henry Levin, PhD, Program in Cellular Regulation and Metabolism, NICHD, Bethesda, MD
  • Richard Maraia, MD, Program in Genomics of Differentiation, NICHD, Bethesda, MD
  • Keiko Ozato, PhD, Program on Genomics of Differentiation, NICHD, Bethesda, MD
  • Karel Pacak, MD, PhD, DSc, Program on Developmental Endocrinology and Genetics, NICHD, Bethesda, MD
  • Constantine Stratakis, MD, D(med)Sci, Program on Developmental Endocrinology and Genetics, NICHD, Bethesda, MD
  • Brant Weinstein, PhD, Program in Genomics of Differentiation, NICHD, Bethesda, MD

Contact

For more information, email fdporter@mail.nih.gov or MolGenomicsLab@mail.nih.gov, or visit mgl.nichd.nih.gov.

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