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MassGenomics
Medical genomics in the post-genome era
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    Inherited retinal disease genomics at ASHG 2016
    Inherited retinal diseases (IRDs) comprise a heterogeneous group of retinal degenerations, including retinitis pigmentosa, choroideremia, Leber congenital amaurosis, and other dystrophies. These disorders exhibit remarkable genetic heterogeneity; mutations in numerous different genes can cause a retinal disorder, and they can be inherited in dominant, recessive, or X‐linked fashion. I proposed an ...
    What Clinicians Want from NGS-based Tests
    Next-gen sequencing technologies have introduced two paradigm shifts for genomic medicine. First, they’ve accelerated the discovery of pathogenic variants and disease-associated genes for myriad inherited diseases, providing the basis for expanded genetic testing and carrier screens. Second, they’ve provided a superior assay for performing those tests in a clinical setting. From a rese...
    dbSNP exceeds a ridiculous 150 million variants
    Earlier this week, I took a look at the dbSNP VCF file for build 147 (human) with Ben Kelly from the White Lab at NCH. Even summary statistics took a while to generate, and soon we realized why: dbSNP now contains a jaw-dropping 152.7 million reference variants. Roughly speaking, that’s one variant for every 20.5 base […]