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Marfan Database (third edition): new mutations and new routines for the software.

ABSTRACT: The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr

SUBMITTER: Collod-Beroud G

PROVIDER: S-EPMC147226 | biostudies-other | 1998 Jan

REPOSITORIES: biostudies-other

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Marfan Database (third edition): new mutations and new routines for the software.

Collod-Béroud G G Béroud C C Ades L L Black C C Boxer M M Brock D J DJ Holman K J KJ de Paepe A A Francke U U Grau U U Hayward C C Klein H G HG Liu W W Nuytinck L L Peltonen L L Alvarez Perez A B AB Rantamäki T T Junien C C Boileau C C

Nucleic acids research 19980101 1

The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr ...[more]

PMID: 9399842

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ENCoRE: a lightweight software for CRISPR screens identifies new players in apoptosis

Project description:As CRISPR/Cas9 mediated screens with pooled sgRNA libraries in somatic cells become increasingly established, an unmet need for rapid and accurate companion informatics tools has emerged. We have developed a lightweight standalone software to easily manipulate raw large next generation sequencing (NGS) datasets derived from such screens into informative relational context with graphical support. We demonstrate the capabilities of the software to interrogate meaningful results from an in vitro viability screen using Tumor Necrosis Factor-alpha (TNFa). The results not only identified stereotypical players in extrinsic apoptotic signaling but two as yet uncharacterized members of the apoptotic cascade, Smg7 and Ces2a. We further characterized cell lines containing mutations in these genes against a panel of cell death stimuli. In summary, this software enables bench scientists without access to informatic cores to rapidly access and interpret results from large scale experiments resulting from CRISPR/Cas9 library screens.

2017-10-19 | GSE89994 | GEO

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