Affiliation: Massachusetts Institute of Technology
- Using DNA sequencers as stethoscopesMelissa Gymrek
Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
Genome Med 3:73. 2011..A report on the Cold Spring Harbor Laboratory meeting on 'Personal Genomes', Cold Spring Harbor, New York, USA, 30 September to 2 October, 2011...
- Blood ties: chimerism can mask twin discordance in high-throughput sequencingYaniv Erlich
Whitehead Institute for Biomedical Research, Cambridge, MA 02142, United States of America
Twin Res Hum Genet 14:137-43. 2011..This raises questions regarding any conclusions of genomic homogeneity that might be drawn from studies of blood-derived twin DNA...
- Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisYaniv Erlich
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Genome Res 21:658-64. 2011..Our strategy can be useful for a large class of disorders that are characterized by locus heterogeneity, particularly when studying disorders in single families...
- lobSTR: A short tandem repeat profiler for personal genomesMelissa Gymrek
Harvard MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
Genome Res 22:1154-62. 2012..The package accepts raw sequencing reads and provides the user with the genotyping results. It is written in C/C++, includes multi-threading capabilities, and is compatible with the BAM format...