Madhavi Ganapathiraju | Search PubMed

PubMed2006

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.

Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability.

Adolescent↗

PubMed2004

BLMT: statistical sequence analysis using N-grams.

UNLABELLED: Statistical analysis of amino acid and nucleotide sequences, especially sequence alignment, is one of the most commonly performed tasks in modern molecular biology. However, for many tasks in bioinformatics, the requirement for the features in an alignment to be consecutive is restrictive and "n-grams" (aka k-tuples) have been used as features instead. N-grams are usually short nucleotide or amino acid sequences of length n, but the unit for a gram may be chosen arbitrarily. The n-gram concept is borrowed from language technologies where n-grams of words form the fundamental units in statistical language models. Despite the demonstrated utility of n-gram statistics for the biology domain, there is currently no publicly accessible generic tool for the efficient calculation of such statistics. Most sequence analysis tools will disregard matches because of the lack of statistical significance in finding short sequences. This article presents the integrated Biological Language Modeling Toolkit (BLMT) that allows efficient calculation of n-gram statistics for arbitrary sequence datasets. AVAILABILITY: BLMT can be downloaded from http://www.cs.cmu.edu/~blmt/source and installed for standalone use on any Unix platform or Unix shell emulation such as Cygwin on the Windows platform. Specific tools and usage details are described in a "readme" file. The n-gram computations carried out by the BLMT are part of a broader set of tools borrowed from language technologies and modified for statistical analysis of biological sequences; these are available at http://flan.blm.cs.cmu.edu/.

Algorithms↗