From pseudogenes to proteins

http://www.nature.com/nmeth/journal/v8/n6/full/nmeth0611-448b.html

Combining proteome analysis with genome sequencing improves gene annotation and yields evidence that some genes presumed to be noncoding are actually expressed.

http://genome.cshlp.org/content/21/5/756

Brosch, M. et al. Shotgun proteomics aids discovery of novel protein-coding genes, alternative splicing and 'resurrected' pseudogenes in the mouse genome. Genome Res. 5, 756–767 (2011).

Lessons on the pathogenesis of aneurysm from heritable conditions

http://www.nature.com/nature/journal/v473/n7347/pdf/nature10145.pdf

miRNAs in human cancer

http://onlinelibrary.wiley.com/doi/10.1002/path.2806/pdf

作者是洛克菲勒大学的Thomas Tuschl.

Haplo-insufficiency: a driving force in cancer

http://onlinelibrary.wiley.com/doi/10.1002/path.2800/pdf

非常精彩的综述，讲解了抑癌基因p53和PTEN的故事。
Haplo-insufficiency在癌症中的重要性长期被低估。

next-generation association studies

http://www.nature.com/ng/journal/v43/n4/full/ng0411-287.html

http://www.nature.com/ng/journal/v43/n4/full/ng.781.html

http://www.nature.com/ng/journal/v42/n8/full/ng.628.html

Figure 1  Overview of the steps involved in a nextgeneration complex trait association study.

Intron retention facilitates splice variant diversity - PNAS 2010 Oct

http://www.pnas.org/content/107/49/21152.full.pdf

What is the sequencing "depth" or "coverage"?

http://biostar.stackexchange.com/questions/638/what-is-the-sequencing-depth

http://mmbr.asm.org/cgi/reprint/72/4/557