Whole-genome analysis: annotations and updates
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Updated: Oct 7, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
1Laboratory of Computational Genomics, 1230 York Avenue, Rockefeller University, New York, New York 10021, USA. gaasterl@genomes.rockefeller.edu
Abstract:
The most important advances in the field of genome annotation over the past two years involve the use of cDNA sequences, protein structures and gene expression data to predict genes. These types of information not only improve gene identification, but they also give insights into variation in gene structure and function.
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