GSE48592

Whole-genome Haplotype Reconstruction using Proximity-ligation and Shotgun Sequencing

Rapid advances in high-throughput DNA sequencing technologies are accelerating the pace of research into personalized medicine. While methods for variant discovery and genotyping from whole genome sequencing (WGS) datasets have been well established, linking variants together into a single haplotype remains a challenge. An understanding of complete haplotypes of an individual will help clarify the consequences of inheriting multiple alleles in combination, identify novel disease associations, an...

Provenance — who produced it, who reused it

Linked to 5 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.

Standardized, field-standard QC computed by touching the data — every metric states how it was obtained

measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently