Steven L. Salzberg

About

Steven L. Salzberg, PhD, is a Bloomberg Distinguished Professor at Johns Hopkins University, holding appointments in Biomedical Engineering, Computer Science, and Biostatistics. He is the Director of the Center for Computational Biology. His research focuses on the development of new computational methods for analysis of DNA from the latest sequencing technologies. Over the years, he has developed and applied software to many problems in gene finding, genome assembly, comparative genomics, evolutionary genomics, and sequencing technology itself. His current work emphasizes analysis of DNA and RNA sequenced with next-generation technology. Salzberg's contributions to genomics software have been recognized through his inclusion on Clarivate’s Highly Cited Researchers list. He holds a PhD in Computer Science from Harvard University, an MPhil and MS in Computer Science from Yale University, and a BA in English from Yale University.

Research topics

• Genetics
• Biology
• Computational biology
• Computer Science
• Botany
• Evolutionary biology
• Endocrinology
• Medicine
• Bioinformatics
• Demography

Selected publications

• The complete sequence of a human genome

  Science · 2022 · 3273 citations

  Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion-base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequenc…

  PublisherOA PDFDOI

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

  Nature · 2021 · 2261 citations

  . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…

  DOI

• Liftoff: accurate mapping of gene annotations

  Bioinformatics · 2020-11-24 · 1083 citations

  articleOpen accessSenior author

  MOTIVATION: Improvements in DNA sequencing technology and computational methods have led to a substantial increase in the creation of high-quality genome assemblies of many species. To understand the biology of these genomes, annotation of gene features and other functional elements is essential; however, for most species, only the reference genome is well-annotated. RESULTS: One strategy to annotate new or improved genome assemblies is to map or 'lift over' the genes from a previously annotated…

  PublisherOA PDFDOI

• Inherited causes of clonal haematopoiesis in 97,691 whole genomes

  Nature · 2020 · 726 citations

  DOI

• Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

  Nature Genetics · 2022 · 354 citations

  DOI

Recent grants

• NIH Grant K01HG000022

  NIH · $335k · 2000

• Bioinformatics Software for Analyzing Microbial Genomes

  NIH · $2.1M · 2008–2019

• A Software Framework for Exploring 1,000 Genomes of African Descent

  NIH · $1.4M · 2015–2019

Frequent coauthors

• Claire M. Fraser

  University of Maryland, Baltimore

  215 shared

• Mihaela Pertea

  Johns Hopkins University

  207 shared

• Owen White

  University of Maryland, Baltimore

  200 shared

• Jennifer R. Wortman

  175 shared

• Brian J. Haas

  Broad Institute

  175 shared

• Arthur L. Delcher

  Johns Hopkins University

  145 shared

• Daniela Puiu

  Johns Hopkins University

  136 shared

• Tamara V. Feldblyum

  Center for Devices and Radiological Health

  120 shared

Education

• Ph.D., Computer Science

  Harvard University

  1989

• M. Phil., Computer Science

  Yale University

  1984

• M.S., Computer Science

  Yale University

  1982

• B.A., English

  Yale University

  1980

Awards & honors

• Clarivate’s Highly Cited Researchers list (2025)

Similar researchers at Johns Hopkins University

• Rachel Greenh-114
• Ernesto Freireh-94
• Margaret Johnsonh-92