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Monday, October 14, 2019

In New Tibetan Genome Assembly, Variants for Living at Altitude and the Imprint of Archaic DNA

The high-altitude Tibetan Plateau. Photo by McKay Savage via Wikimedia Commons A recent bioRxiv preprint reports efforts to sequence the genome of a Tibetan individual and detect the genetic underpinning of adaptive traits associated with tolerating high altitude. The authors used SMRT Sequencing to achieve extremely high contiguity and accuracy, and incorporated scaffolding and other complementary technologies to build a robust assembly. The results are reported in the preprint, “De novo assembly of a Tibetan genome and identification of novel structural variants associated with high altitude adaptation.” Lead author Ouzhuluobu, senior author Bing Su, and collaborators discuss their evaluation of the…

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Wednesday, March 6, 2019

GIAB Expands Variant Call Sets with SMRT Sequencing Results

Genome in a Bottle Consortium You may have missed last week’s Advances in Genome Biology & Technology conference in sunny Marco Island, Fla., but you definitely shouldn’t miss the two posters presented there by Justin Zook and Justin Wagner from NIST’s Genome in a Bottle (GIAB) consortium. The GIAB team has made critical progress in generating high-quality human genome reference materials and benchmarks that have helped to improve the accuracy and reproducibility of variant calling across laboratories. The latest results advance that work with an expansion of the benchmark set to include additional small (single-nucleotide variant and indel) variants and…

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Thursday, February 21, 2019

Scientists Uncover Epilepsy-Causing Structural Variant with SMRT Sequencing

A new publication in the Journal of Human Genetics describes an impressive effort to identify the pathogenic variant causing progressive myoclonic epilepsy in two siblings. The scientific team used SMRT Sequencing to discover a 12.4 kb structural variant in a repetitive, GC-rich region after several other methods — including whole exome sequencing — failed to find the answer. The paper comes from lead author Takeshi Mizuguchi, senior author Naomichi Matsumoto, and collaborators at Yokohama City University, Aichi Prefectural Colony Central Hospital, and other institutions in Japan. As the authors note, whole exome sequencing has delivered strong results for many cases…

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