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Quality control test for sequence-phenotype assignments.

ABSTRACT: Relating a gene mutation to a phenotype is a common task in different disciplines such as protein biochemistry. In this endeavour, it is common to find false relationships arising from mutations introduced by cells that may be depurated using a phenotypic assay; yet, such phenotypic assays may introduce additional false relationships arising from experimental errors. Here we introduce the use of high-throughput DNA sequencers and statistical analysis aimed to identify incorrect DNA sequence-phenotype assignments and observed that 10-20% of these false assignments are expected in large screenings aimed to identify critical residues for protein function. We further show that this level of incorrect DNA sequence-phenotype assignments may significantly alter our understanding about the structure-function relationship of proteins. We have made available an implementation of our method at http://bis.ifc.unam.mx/en/software/chispas.

SUBMITTER: Ortiz MT

PROVIDER: S-EPMC4336291 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Quality control test for sequence-phenotype assignments.

Ortiz Maria Teresa Lara MT Rosario Pablo Benjamín Leon PB Luna-Nevarez Pablo P Gamez Alba Savin AS Martínez-del Campo Ana A Del Rio Gabriel G

PloS one 20150220 2

Relating a gene mutation to a phenotype is a common task in different disciplines such as protein biochemistry. In this endeavour, it is common to find false relationships arising from mutations introduced by cells that may be depurated using a phenotypic assay; yet, such phenotypic assays may introduce additional false relationships arising from experimental errors. Here we introduce the use of high-throughput DNA sequencers and statistical analysis aimed to identify incorrect DNA sequence-phen ...[more]

PMID: 25700273

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Dataset Information

Quality control test for sequence-phenotype assignments.

Publications

Quality control test for sequence-phenotype assignments.

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