Waibhav Tembe

TL;DR: High-density single nucleotide polymorphism genotyping microarrays are used to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination.

TL;DR: A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.

TL;DR: The pilot phase of the 1000 Genomes Project is presented, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms, and the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants are described.

TL;DR: This longitudinal WGS characterization of the natural history of a high-risk myeloma patient demonstrated tumor heterogeneity at diagnosis with shifting dominance of tumor clones over time and has also identified potential mutations contributing to myelomagenesis as well as transformation from myelomas to overt extramedullary disease such as sPCL.

TL;DR: Data indicate that extracellular miRNAs detectable in the cerebrospinal fluid and serum are reflective of cell-based changes in pathology and can be used to assess disease progression and therapeutic efficacy.