ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

ClinSeq®: A Large-Scale Medical Sequencing Clinical Research Pilot Study

ClinSeq



Study News and Updates



Newsletters
ClinSeq® in the News
  • Coming Soon
ClinSeq® Publications
  • Johnston JJ, Rubinstein WS, Facio F, Ng D, Singh L, Teer J, Mullikin J, Biesecker LG. Screening for cancer susceptibility syndromes by whole exome sequencing of 572 individuals. Am J Hum Genet, 91:97-108. 2012. [PubMed]

  • Green RC, Berg J, Biesecker LG, Dimmock D, Evans JP, Grody WW, Hegde M, Kahlia S, Korf B, Krantz I, McGuire A, Miller D, Murray M, Nussbaum R, Plon S, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical whole genome sequencing. Genet Med, 14:405-410. 2012. [PubMed]

  • Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics, 28:599-600. 2012. [PubMed]

  • Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq® project. Genet Med, 14:393-398. 2012. [PubMed]

  • Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Blech I, NISC Comparative Sequencing Program, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J Clin Invest, 122:205-217. 2012. [PubMed]

  • Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, O'Brien K, Hauser NS, Sapp JC, NISC, Barshop BA, Berry S, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet, 43:883-886. 2011. [PubMed]
ClinSeq® Lectures and Symposia
  • June 2012 European Society of Human Genetics Special Session on Clinical Genomics.

  • Harvard University/MIT Broad Institute. "Hypothesis-testing and hypothesis-generating modes of discovery and medical care", May 2012.

  • March 2012 American College of Medical Genetics. Presidential Plenary Session lecture on how sequencing will change medical care.

  • March 2012 American Association for Cancer Research Annual meeting workshop on ClinSeqtm screening for cancer syndromes.

  • Nov 2011 NSGC Plenary Lecture on Genetic counseling challenges for whole genome sequencing.

  • July 2011 Gordon Research Conference lecture on novel approaches to genetic research in clinseq.

  • Transcriptome Profiling of Cardiovascular Disease by Massively Parallel Short-Read DNA Sequencing, NIH Research Festival 2011.

  • Transcriptome profiling in atherosclerosis: a combined analysis of RNA-Seq and microarray data from lymphoblastoid cell lines NIH Center for Human Inflammation lecture series, 2011.

  • Transcriptome Profiling of ClinSeq® Project Participants by Massively Parallel Short-Read DNA Sequencing Advances in Genome Biology and Technology 201, Marco Island, Fla.

  • Identifying pathogenic malignant hyperthermia variants in an unscreened population using whole exome sequencing. Poster Presentation at The American Society of Human Genetics (ASHG), Annual Genetics Conference, Montreal, October 13, 2011.

  • Detecting and interpreting human genome variation: From populations to the individual. Presentation at Human Genomics: The next 10 years, La Jolla, Calif., February 22-23, 2011.

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Last Updated: July 31, 2012