Computational tools for prioritizing candidate genes: boosting disease gene discovery

Y Moreau, LC Tranchevent - Nature Reviews Genetics, 2012 - nature.com
At different stages of any research project, molecular biologists need to choose—often
somewhat arbitrarily, even after careful statistical data analysis—which genes or proteins to …

Disease gene identification strategies for exome sequencing

C Gilissen, A Hoischen, HG Brunner… - European Journal of …, 2012 - nature.com
Next generation sequencing can be used to search for Mendelian disease genes in an
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …

PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations

J Bendl, J Stourac, O Salanda, A Pavelka… - PLoS computational …, 2014 - journals.plos.org
Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the
coding regions are frequently associated with the development of various genetic diseases …

Bioinformatics challenges for personalized medicine

GH Fernald, E Capriotti, R Daneshjou… - …, 2011 - academic.oup.com
Motivation: Widespread availability of low-cost, full genome sequencing will introduce new
challenges for bioinformatics. Results: This review outlines recent developments in …

Recent advances and emerging applications in text and data mining for biomedical discovery

GH Gonzalez, T Tahsin, BC Goodale… - Briefings in …, 2016 - academic.oup.com
Precision medicine will revolutionize the way we treat and prevent disease. A major barrier
to the implementation of precision medicine that clinicians and translational scientists face is …

Candidate gene association studies: a comprehensive guide to useful in silicotools

R Patnala, J Clements, J Batra - BMC genetics, 2013 - Springer
The candidate gene approach has been a pioneer in the field of genetic epidemiology,
identifying risk alleles and their association with clinical traits. With the advent of rapidly …

Molecular genetic studies of ADHD and its candidate genes: a review

Z Li, S Chang, L Zhang, L Gao, J Wang - Psychiatry research, 2014 - Elsevier
Attention-deficit/hyperactivity disorder (ADHD) is a common childhood-onset psychiatric
disorder with high heritability. In recent years, numerous molecular genetic studies have …

Prodige: Prioritization of disease genes with multitask machine learning from positive and unlabeled examples

F Mordelet, JP Vert - BMC bioinformatics, 2011 - Springer
Background Elucidating the genetic basis of human diseases is a central goal of genetics
and molecular biology. While traditional linkage analysis and modern high-throughput …

[HTML][HTML] IoMT-based mitochondrial and multifactorial genetic inheritance disorder prediction using machine learning

A Rahman, MU Nasir, M Gollapalli, SA Alsaif… - Computational …, 2022 - hindawi.com
A genetic disorder is a serious disease that affects a large number of individuals around the
world. There are various types of genetic illnesses, however, we focus on mitochondrial and …

[BOOK][B] Computational systems biology of cancer

E Barillot, L Calzone, P Hupe, JP Vert, A Zinovyev - 2013 - api.taylorfrancis.com
Cancer is a complex and heterogeneous disease that exhibits high levels of robustness
against various therapeutic interventions. It is a constellation of diverse and evolving …