The variants you see and the variants you don't see
CureFFI.org,
Above: every possible single-nucleotide variant in PRNP, colored by functional class and sized by probability of arising by de…
Above: every possible single-nucleotide variant in PRNP, colored by functional class and sized by probability of arising by de…
introduction Traditionally, people have estimated how common a genetic disease is by observing the disease itself. With the…
GPI-anchored proteins are the odd man out. In introductory Cell Biology, they taught us that there were five types of membrane…
Sequencing reads showing a nonsense variant in PRNP, a gene for which antisense oligonucleotides to lower expression are in…
This study goes firmly into the file marked “You never could have done this one a few years ago, sonny”. We already know that…
Posting scientific papers online, free to the public, seems like a great idea. But it's more complicated than it sounds.
In our study last year, by comparing case and population control allele frequencies, we managed to come to conclusions about…
With a current population size of over 7 billion, the human population should contain a huge amount of genetic variation. Most…
Exploration of variability of human genomes represents a key step in the holy grail of human genetics – to link genotypes with…
Last month I was invited to speak at the Centers for Mendelian Genomics (CMG) Analysis and Methods Development meeting about “Pop…
By Ken Weiss and Anne BuchananThe Big Story in the latest Nature ("A radical revision of human genetics: Why many ‘deadly’ gene…
This Autumn, we will continue to discuss papers in related series: Series 1: human genome…
Analysis of an exome sequence data set from more than 60,000 people with diverse ancestries will continue to yield new insights…
Natural selection cannot invent things. That's a fact that Douglas Axe establishes clearly in his new book Undeniable. All…
With the publication of a new paper in Nature, the Exome Aggregation Consortium (ExAC) has received some much deserved…
If you care about some area of human life, and you look at it closely, it probably won't take you long to become a contrarian…
Lek et al. [1] in Nature, describes a tour de force large scale reference data set of high-quality protein-coding variation…
Using a massive exome sequencing database, researchers have identified millions of genetic variants for further study.
Exome Aggregation Consortium (ExAC), generated the largest catalogue so far of variation in human protein-coding regions: Sequenc…
We report this week in Nature and Nature Genetics the first publications from the Exome Aggregation Consortium (ExAC), a…
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