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
"Evolution or extinction: Adapting the clinical genetics paradigm." Presidential Plenary Session - The Coming Revolution in Medical Genetics: From Double Helix to Genomics and Back Again. American College of Medical Genetics Annual Meeting. Charlotte, 28 March 2012.
"Cancer gene screening from 572 exomes: Lessons and challenges." American Association of Cancer Research Annual Meeting. Chicago, 31 March 2012.
"Scaling Genetic Counseling: The Challenges of Extracting Clinically Relevant Data from Whole Genome and Exome Sequencing." National Society of Genetic Counselors Annual Education Conference. San Diego, November 2011.
"NextGen Sequencing Technologies and Genetic Counseling: Early Experiences, Future Directions." National Society of Genetic Counselors Annual Education Conference. San Diego, November 2011.
"New opportunities in clinical genomics: Hypothesis-generating clinical research and clinical annotation of genomes." Gordon Research Conference. Newport, July 2011.
"Transcriptome Profiling of Cardiovascular Disease by Massively Parallel Short-Read DNA Sequencing." NIH Research Festival. Bethesda, 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. Bethesda, 2011.
"Transcriptome Profiling of ClinSeq Project Participants by Massively Parallel Short-Read DNA Sequencing." Advances in Genome Biology and Technology 201. Marco Island, 2011.
"Identifying pathogenic malignant hyperthermia variants in an unscreened population using whole exome sequencing." The American Society of Human Genetics Annual Genetics Conference. Montreal, October 2011.
"Detecting and interpreting human genome variation: From populations to the individual." Human Genomics: The next 10 years. La Jolla, February 2011.
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