Too many papers, too little time
A huge number of genetics papers were unloaded into my twitter timeline. I’ve been looking at these papers like a child looking at the different varieties of candies in a candy shop. My attention kept jumping from one paper to another restlessly. I want to read this. I want to read that. This. That. This. That. I hope to read all these “some day”.
The TOPMED paper is finally--it looks like it has been in review for ever--out in Nature and seems to hold many interesting contents. I am particularly looking forward to the rare variants section. The abstract reads--“These rare variants provide insights into mutational processes and recent human evolutionary history.“ A quick glance revealed some fascinating analyses, e.g. population differences based on singletons. I always thought singletons mostly represent denovo variants and so have nothing to do with ancestry. Apparently, I am wrong, it looks like. I’ll know when I read the paper.
A review paper titled “Origins of modern human ancestry“ has come out in Nature, which I learnt from Simon Fisher’s tweet. According to Prof. Fisher, this is a “must read nature paper”. I can’t wait to dive into this.
To celebrate the 20th anniversary of Human Genome Project completion, Nature has published many ‘news and views’ articles.
1. “Breaking through the unknowns of human reference genome”
2. “From one human genome to a complex tapestry of ancestry“--this is so exciting.
3. “Sequence three million genomes across Africa“--what? did you say 3 million?
4. “A wealth of discovery built on the Human Genome Project — by the numbers“--amazing visualizations!
5. “How the human genome transformed study of rare diseases”
6. “The broken promise that undermines human genome research“--very important article, which talks about data sharing and importantly, data hoarding.
Another paper in NPJ genomic medicine reports the association between of amylase copy number genes and adiposity traits. I am very much looking forward to read this. I have a long history with amylase copy number variants, which itself will require a separate post.
Another paper in AJHG title “Genetic control of the human brain proteome” reports a new brain pQTL analysis and importantly, compares pQTLs with eQTLs. The abstract reads “Comparison to a large study of brain eQTLs revealed that about 75% of pQTLs are also eQTLs. In contrast, about 40% of eQTLs were identified as pQTLs.“ I am super excited to dive into this too.
