X   Phy Chem Bio Med Soc
Reading P1 C1 B1 M1 S1
Writing P2 C2 B2 M2 S2
P3 C3 B3 GET-Evidence Inversions

We need a way to share annotations, error-corrections of the literature (and open standards) as we analyse DNA variants of unknown significance (VUS) as well as re-analyse known variants in the context of modifier genes and environments.

Whole genome sequencing (WGS) has advantages over SNPs, targeted genes and exomes, even if we restrict ourselves to known, highly predictive variants. For example, inversions and translocations in the middle of genes are nearly guaranteed to cause loss-of-function, yet these DNA lesions are nearly impossible to detect using chips or exons -- vs straightforward access to such information by WGS (especially CGI-LFR or Illumina-Moleculo).

Relevant Church Lab Publications:
2012 A Public Resource Facilitating Clinical Use of Genomes. PNAS.
2012 Accurate whole genome sequencing and haplotyping from 10-20 human cells. Nature.
2006 Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods.
2005 Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome Science.