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Eric Green, William Gahl

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NHGRI has made a number of new appointments in a bid to prepare for its next phase of genome research following the completion of the human genome. Eric Green, who founded the NIH Intramural Sequencing Center in 1997, has been named scientific director and director of NHGRI’s Division of Intramural Research. William Gahl, most recently chief of the section on human biochemical genetics in the heritable disorders branch of the NICHD, will serve as intramural clinical director. Mark Guyer has been tapped as director of the Division of Extramural Research. He was previously the assistant director for scientific coordination in the division.

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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.