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New Products: 1,000 Genomes Dataset

Apr 03, 2012
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The National Institutes of Health and Amazon Web Services have made all the data from the international 1000 Genomes Project publicly available here through Amazon's cloud storage service. The dataset is currently 200 terabytes, and includes sequence information from 1,700 individuals. The remaining 900 samples will be sequenced this year and added to the dataset.

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Clinical Sequencing
Sequencing
NIH
Next-Generation Sequencing
Breaking News
The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.