Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
The genecards suite
The GeneCards® database of human genes was launched in 1997 and has expanded
since then to encompass gene-centric, disease-centric, and pathway-centric entities and …
since then to encompass gene-centric, disease-centric, and pathway-centric entities and …
Integrative omics for health and disease
KJ Karczewski, MP Snyder - Nature Reviews Genetics, 2018 - nature.com
Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
Machine learning for multi-omics data integration in cancer
Multi-omics data analysis is an important aspect of cancer molecular biology studies and
has led to ground-breaking discoveries. Many efforts have been made to develop machine …
has led to ground-breaking discoveries. Many efforts have been made to develop machine …
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
[HTML][HTML] Diagnostic utility of exome sequencing for kidney disease
EE Groopman, M Marasa… - … England Journal of …, 2019 - Mass Medical Soc
Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …
clinical disciplines, but its usefulness has yet to be examined for most constitutional …
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …
[HTML][HTML] Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
Drug repurposing for rare diseases
HI Roessler, NVAM Knoers, MM van Haelst… - Trends in …, 2021 - cell.com
Currently, there are about 7000 identified rare diseases, together affecting 10% of the
population. However, fewer than 6% of all rare diseases have an approved treatment option …
population. However, fewer than 6% of all rare diseases have an approved treatment option …