Exome sequencing identifies a missense variant in efemp1 co-segregating in a family with autosomal dominant primary open-angle glaucoma

Medicine & Life Sciences

• fibulin 100%
• Exome 75%
• Open Angle Glaucoma 71%
• Extracellular Matrix Proteins 70%
• Epidermal Growth Factor 61%
• Optic Disk 27%
• Ciliary Body 15%
• Oligonucleotide Probes 15%
• Whole Exome Sequencing 14%
• Retinal Ganglion Cells 14%
• Mutant Proteins 13%
• Microsatellite Repeats 13%
• Computer Simulation 11%
• Haplotypes 11%
• African Americans 11%
• Cornea 11%
• In Situ Hybridization 11%
• Retina 10%
• Cultured Cells 10%
• Ocular Vision 10%
• Exons 10%
• Chromosomes 9%
• Cell Death 9%
• Eye 7%
• Genes 5%
• Proteins 4%

Agriculture & Biology

• glaucoma 87%
• extracellular matrix proteins 85%
• optics 27%
• nerve tissue 21%
• genetic disorders 15%
• oligonucleotide probes 14%
• epidermal growth factor 14%
• cornea 13%
• retina 12%
• cultured cells 11%
• cell death 11%
• in situ hybridization 11%
• exons 11%
• linkage (genetics) 11%
• haplotypes 10%
• eyes 9%
• microsatellite repeats 9%
• proteins 8%
• chromosomes 8%
• loci 7%
• mutants 7%
• mice 7%
• genes 4%

Chemical Compounds

• Protein 25%
• Oligonucleotide Probe 11%
• Retinal 10%
• Cell Death 9%
• Marker 7%
• Substitution Reaction 5%