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Updated: Jun 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
An integrated computational pipeline and database to support whole-genome sequence annotation
C J Mungall1, S Misra, B P Berman
1Howard Hughes Medical Institute, University of California, Berkeley, CA 94720, USA. cjm@fruitfly.org
Abstract:
We describe here our experience in annotating the Drosophila melanogaster genome sequence, in the course of which we developed several new open-source software tools and a database schema to support large-scale genome annotation. We have developed these into an integrated and reusable software system for whole-genome annotation. The key contributions to overall annotation quality are the marshalling of high-quality sequences for alignments and the design of a system with an adaptable and expandable flexible architecture.
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