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Updated: Jul 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
NCBI's LocusLink and RefSeq.
D R Maglott1, K S Katz, H Sicotte
1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Building 38A, 8600 Rockville Pike, Bethesda, MD 20894, USA.
The National Center for Biotechnology Information (NCBI) launched LocusLink and RefSeq, new web tools for accessing gene information and reference sequences. These resources offer a unified view of human gene, transcript, and protein data.
Area of Science:
- Bioinformatics
- Genomics
- Molecular Biology
Background:
- Gene information retrieval is complex.
- Standardized reference sequences are crucial for research.
Purpose of the Study:
- Introduce LocusLink and RefSeq.
- Provide non-redundant gene-based information.
- Establish reference sequence standards.
Main Methods:
- Development of web-based resources.
- Integration of gene, transcript, and protein data.
- Focus on human genetic information.
Main Results:
- LocusLink and RefSeq facilitate gene information access.
- These resources provide standardized reference sequences.
- A non-redundant view of human genetic knowledge is achieved.
Conclusions:
- LocusLink and RefSeq enhance gene data accessibility.
- These NCBI resources support genomic research.
- Standardization of reference sequences improves data consistency.
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