Karyn Meltz Steinberg, Ph.D.,  McDonnell Genome Institute

Dr. Karyn Meltz Steinberg's research is focused on characterizing regions of the genome undetectable by traditional sequencing methods and the association of these loci with complex traits. She is particularly interested in genomic regions associated with immune response and autoimmune diseases such as Systemic Lupus Erythematosus and Type I Diabetes.

Dr. Meltz Steinberg has received numerous awards including a National Science Foundation Graduate Research Fellowship and a Ruth L. Kirschstein National Research Service Award Postdoctoral Fellowship, and she was a semi-Finalist for the Charles J. Epstein Post-Doctoral Trainee Award for Excellence in Human Genetics Research Semi-Finalist through the American Society of Human Genetics.

Before coming to Washington University Dr. Meltz Steinberg completed a postdoctoral fellowship at the University of Washington in Seattle. She received her Ph.D. (Biological and Biomedical Sciences, 2009) from Emory University and her Bachelor degree (Anthropology, Human Biology, 2001) from Northwestern University.


title citation publication date
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 2017 Apr 10. doi: 10.1101/gr.213611.116. 2017-04-10
Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res. 2016 Nov 28. pii: gr.214007.116. [Epub ahead of print] 2016-11-28
Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2015 May 11:1-8. [Epub ahead of print] 2015-05-11
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS. Sci Rep. 2015 Mar 16;5:9124. doi: 10.1038/srep09124. 2015-03-16
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. 2015-03-05
Single haplotype assembly of the human genome from a hydatidiform mole. Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4. 2014-12-01
Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity. Genes Immun. 2014 Oct 23. doi: 10.1038/gene.2014.56. [Epub ahead of print] 2014-10-23
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nat Genet. 2014 Oct 19. doi: 10.1038/ng.3120. [Epub ahead of print] 2014-10-19
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders. Am J Hum Genet. 2014 Feb 19. pii: S0002-9297(14)00054-8. doi: 10.1016/j.ajhg.2014.01.016. [Epub ahead of print] 2014-02-20
The next-generation sequencing revolution and its impact on genomics. Cell. 2013 Sep 26;155(1):27-38. doi: 10.1016/j.cell.2013.09.006. 2013-09-26
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation. Am J Hum Genet. 2013 Mar 26. pii: S0002-9297(13)00112-2. doi: 10.1016/j.ajhg.2013.03.004. [Epub ahead of print] 2013-03-26
Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus. Am J Hum Genet. 2012 Dec 19. pii: S0002-9297(12)00626-X. doi: 10.1016/j.ajhg.2012.11.013. [Epub ahead of print] 2012-12-19
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. 2012 Apr 6;90(4):599-613. 2012-04-06