Annotating the Human Genome

Higher Coverage of Select Mammals

Initiative Rationale

While low-redundancy (2X) whole genome sequencing of mammals has provided a broad resource for scientists interested in comparative human genome annotation, there are limits to its utility. For example, if an organism is an experimental biomedical model system, the community will often require a high-quality genome assembly.

In addition, a high-quality assembly is useful for investigating a number of questions, including:
  • Improving comparative annotation.
  • Definition of large scale chromosomal rearrangements.
  • Reconstructing the ancestral eutherian genome.
  • Analysis of segmental duplication.
  • Analysis of certain types of polymorphism such as copy number polymorphism (CNP) and common insertion/deletion variants.
  • Analysis of endogenous retroviral elements.

Further information on this initiative is available in the white paper see: Increasing sequence coverage from 2x to high coverage (6-7x) for selected mammalian species.

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Active Sequencing Projects

For an updated list of the genomes that are actively being sequenced or that have been completed recently, please see Approved Sequencing Targets.

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Program Contacts

Adam Felsenfeld, Ph.D.
Program Director
E-mail: felsenfa@mail.nih.gov

Jane Peterson, Ph.D.
Associate Director, Division of Extramural Research
E-mail: petersoj@mail.nih.gov

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Last Reviewed: June 13, 2012