From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
Using human genetics to improve safety assessment of therapeutics
Human genetics research has discovered thousands of proteins associated with complex
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …
[HTML][HTML] FinnGen provides genetic insights from a well-phenotyped isolated population
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
FinnGen: Unique genetic insights from combining isolated population and national health register data
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
[HTML][HTML] Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …
variants associated with human diseases and traits, but the landscape of rare variations in …
Metastasis from the tumor interior and necrotic core formation are regulated by breast cancer-derived angiopoietin-like 7
A Yamamoto, Y Huang, BA Krajina… - Proceedings of the …, 2023 - National Acad Sciences
Necrosis in the tumor interior is a common feature of aggressive cancers that is associated
with poor clinical prognosis and the development of metastasis. How the necrotic core …
with poor clinical prognosis and the development of metastasis. How the necrotic core …
[HTML][HTML] Significant sparse polygenic risk scores across 813 traits in UK Biobank
We present a systematic assessment of polygenic risk score (PRS) prediction across more
than 1,500 traits using genetic and phenotype data in the UK Biobank. We report 813 sparse …
than 1,500 traits using genetic and phenotype data in the UK Biobank. We report 813 sparse …
Extraocular, periocular, and intraocular routes for sustained drug delivery for glaucoma
UB Kompella, RR Hartman, MA Patil - Progress in retinal and eye research, 2021 - Elsevier
Although once daily anti-glaucoma drug therapy is a current clinical reality, most therapies
require multiple dosing and there is an unmet need to develop convenient, safe, and …
require multiple dosing and there is an unmet need to develop convenient, safe, and …
The genetic basis for adult onset glaucoma: recent advances and future directions
Glaucoma, a diverse group of eye disorders that results in the degeneration of retinal
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma
ERA Collantes, MS Delfin, B Fan… - Human …, 2022 - Wiley Online Library
Juvenile open‐angle glaucoma (JOAG) is a severe type of glaucoma with onset before age
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …