you are not signed in | sign in or register
MassGenomics
Medical genomics in the post-genome era
Feed & Web Facts
10
Feed Item Count
21 Sep 16 22:24
Last Reading
2.0
RSS/XML Version
(english)
Feed Language
UTF-8
Feed Encoding
Related Feeds
You could also like to visit these feeds:
    3.133
    Page-Views
     
    2.032
    Weekly People
    Week 38
    massgenomics.org
    MassGenomics
    Traffic Overview
    Newest Posts in Feed
    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 […]
    A New Era for MassGenomics
    When I started MassGenomics in 2008, next-generation sequencing was in its infancy. We’d sequenced AML1 — the first cancer genome — with two nascent platforms: Illumina/Solexa (32-bp reads) and 454 FLX (450-bp reads). Already, we had a glimpse of the bioinformatics challenges that these technologies brought forth. Sequencing for Common Disease It’s astonishing how far the f...
    The Genetic Architecture of Complex Disease
    It’s no secret that while genome-wide association studies (GWAS) have implicated thousands of genetic loci in human phenotypes, the variants uncovered collectively explain only a fraction of the observed variance between individuals. The reasons for this “missing heritability” are a subject of vigorous debate in the scientific community. One possible explanation is that rare (low...