Biological relevance of computationally predicted pathogenicity of noncoding variants

L Liu, MD Sanderford, R Patel… - Nature …, 2019 - nature.com
Computational prediction of the phenotypic propensities of noncoding single nucleotide
variants typically combines annotation of genomic, functional and evolutionary attributes into …

Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch–Nyhan disease and HPRT1-related gout by in silico …

AK Agrahari, MK Priya, MP Kumar, IA Tayubi… - Computers in Biology …, 2019 - Elsevier
The nucleotide salvage pathway is used to recycle degraded nucleotides (purines and
pyrimidines); one of the enzymes that helps to recycle purines is hypoxanthine guanine …

DROIDS 1.20: a GUI-based pipeline for GPU-accelerated comparative protein dynamics

GA Babbitt, JS Mortensen, EE Coppola, LE Adams… - Biophysical …, 2018 - cell.com
Traditional informatics in comparative genomics work only with static representations of
biomolecules (ie, sequence and structure), thereby ignoring the molecular dynamics (MD) of …

[HTML][HTML] Can all heritable biology really be reduced to a single dimension?

GA Babbitt, EE Coppola, MA Alawad, AO Hudson - Gene, 2016 - Elsevier
A long-held presupposition in the field of bioinformatics holds that genetic, and now even
epigenetic 'information'can be abstracted from the physicochemical details of the …

Use of germline genetic variability for prediction of chemoresistance and prognosis of breast cancer patients

V Hlavac, M Kovacova, K Elsnerova, V Brynychova… - Cancers, 2018 - mdpi.com
The aim of our study was to set up a panel for targeted sequencing of chemoresistance
genes and the main transcription factors driving their expression and to evaluate their …

A computational approach to identify a potential alternative drug with its positive impact toward PMP22

AK Agrahari - Journal of Cellular Biochemistry, 2017 - Wiley Online Library
ABSTRACT Mutations in the Peripheral Myelin Protein 22 (PMP22) leads to Charcot Marie
Tooth type 1A (CMT1A, a subtype of CMT1) disease which is the most common inherited …

Common treatment, common variant: evolutionary prediction of functional pharmacogenomic variants

LB Scheinfeldt, A Brangan, DM Kusic, S Kumar… - Journal of Personalized …, 2021 - mdpi.com
Pharmacogenomics holds the promise of personalized drug efficacy optimization and drug
toxicity minimization. Much of the research conducted to date, however, suffers from an …

Artificial Intelligence-Driven Prediction Revealed CFTR Associated with Therapy Outcome of Breast Cancer: A Feasibility Study

M Kováčová, V Hlaváč, R Koževnikovová, K Rauš… - Oncology, 2024 - karger.com
Artificial Intelligence-driven Prediction Revealed CFTR Associated With Therapy Outcome Of
Breast Cancer: A Feasibility Study Page 1 1 Oncology , DOI: 10.1159/000540395 Received …

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine–Sottas syndrome type B (DSSB): A molecular modeling and dynamics

A Agrahari, CGP Doss - Journal of theoretical biology, 2015 - Elsevier
Myelin protein zero (MPZ) gene encodes MPZ protein is a vital component of the myelin
sheath. Mutationsassociated with MPZ gene leads to severe de-hypomyelination Dejerine …

Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes

CS Chong, V Limviphuvadh, S Maurer‐Stroh - Human Mutation, 2021 - Wiley Online Library
Next‐generation sequencing technology has afforded the discovery of many novel variants
that are of significance to inheritable pharmacogenomics (PGx) traits but a large proportion …