Just a glance at GenomeWeb’s “In Print: Clinical Sequencing Papers of Note of the Last Two Weeks” is enough to show how hard it is to keep up with the sequencing revolution. Of the 37 publications mentioned here, 15 talk about whole-exome sequencing (WES) (and two amplicon sequencing and three whole-genome seq) identifying the causal variant(s).
Most of them use a slightly different way to align the reads, call variants and interpret the results. This reflects on the recent review paper in Bioinformatics journal (Tools for mapping high-throughput sequencing data) and the relevant blog post talking about the challenges of such a diverse tool-set (An embargo on short read alignment tools).
Amidst all this, the NGS Catalog is a wonderful tool to correlate technology with gene or disease or even specific mutations, along with author names and publications. So much data that can be mined for very useful snippets of information.
Thanks to the express permission of GenomeWeb editors, I am able to post below the list of papers highlighted in their section (which is behind a login access)