Timothy Hefferon

TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

TL;DR: The 1000 Genomes Project as mentioned in this paper provided a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and reported the completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole genome sequencing, deep exome sequencing and dense microarray genotyping.

TL;DR: During the processing of these data, improvements to the data model, submission process and data representation have been made and significant improvements in providing access to these data via web and FTP interfaces are made.

TL;DR: Results show that TCS in the patient is due to haploinsufficiency of TCOF1 caused by the synonymous de novo c.3612A > C mutation, and highlights the importance of clinical and pedigree evaluation in the interpretation of known and novel sequence alterations.

TL;DR: In this paper, the ABCC6 gene encoding the cellular transporter, which is primarily expressed in liver and kidney, was found to have mutations in 10% of patients with confirmed Pseudoxanthoma elasticum (PXE) after liver transplant.