Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression

MJ Li, B Yan, PC Sham, J Wang - Briefings in bioinformatics, 2015 - academic.oup.com
Understanding the genetic basis of human traits/diseases and the underlying mechanisms
of how these traits/diseases are affected by genetic variations is critical for public health …

Genetic models and approaches to study orofacial clefts

EJ Leslie - Oral diseases, 2022 - Wiley Online Library
Abstract Introduction Orofacial clefts (OFCs) are common craniofacial birth defects with
heterogeneous phenotype and etiology. Geneticists have applied nearly every available …

The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing

JF Boland, CC Chung, D Roberson, J Mitchell, X Zhang… - Human genetics, 2013 - Springer
We assessed the performance of the new Life Technologies Proton sequencer by
comparing whole-exome sequence data in a Centre d'Etude du Polymorphisme Humain trio …

3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints

DG Won, DW Kim, J Woo, K Lee - Bioinformatics, 2021 - academic.oup.com
Motivation Improvements in next-generation sequencing have enabled genome-based
diagnosis for patients with genetic diseases. However, accurate interpretation of human …

Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder

C Friedrich, S Rinné, S Zumhagen, AK Kiper… - EMBO molecular …, 2014 - embopress.org
Analyzing a patient with progressive and severe cardiac conduction disorder combined with
idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium …

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

GJ Swaminathan, E Bragin… - Human molecular …, 2012 - academic.oup.com
Patients with developmental disorders often harbour sub-microscopic deletions or
duplications that lead to a disruption of normal gene expression or perturbation in the copy …

The human gene connectome as a map of short cuts for morbid allele discovery

Y Itan, SY Zhang, G Vogt… - Proceedings of the …, 2013 - National Acad Sciences
High-throughput genomic data reveal thousands of gene variants per patient, and it is often
difficult to determine which of these variants underlies disease in a given individual …

Whole-exome sequencing and its impact in hereditary hearing loss

T Atik, G Bademci, O Diaz-Horta, SH Blanton… - Genetics …, 2015 - cambridge.org
Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …

[HTML][HTML] Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

A Ohtake, K Murayama, M Mori, H Harashima… - … et Biophysica Acta (BBA …, 2014 - Elsevier
Mitochondrial disorders have the highest incidence among congenital metabolic diseases,
and are thought to occur at a rate of 1 in 5000 births. About 25% of the diseases diagnosed …

Genomic insights into heart health: Exploring the genetic basis of cardiovascular disease

M Safdar, M Ullah, A Wahab, S Hamayun… - Current Problems in …, 2024 - Elsevier
Cardiovascular diseases (CVDs) are considered as the leading cause of death worldwide.
CVD continues to be a major cause of death and morbidity despite significant improvements …