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Tuesday, November 17, 2020

Scientists Pinpoint Pathogenic Inversion in Intellectual Disability Case Using HiFi Sequencing

Scientists at Yokohama City University Graduate School of Medicine and Osaka Women’s and Children’s Hospital have discovered a novel pathogenic variant associated with intellectual disability. They made the discovery using HiFi sequencing after previous short-read investigations failed to produce an answer. In the journal Genomics, the team reports the case of 12-year-old monozygotic twin girls who exhibited developmental delays, severely drooping eyelids, and seizures since the age of 5 months. Clinical symptoms matched Dravet syndrome, but no molecular evidence was available to confirm that diagnosis. Their case had previously been analyzed with short-read exome sequencing, but no pathogenic variants were…

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Thursday, October 29, 2020

Breast Cancer Research Legend Mary-Claire King Identifies New Pathogenic Mutation with HiFi Sequencing

Mary-Claire King It’s Breast Cancer Awareness Month, and we can’t think of a better way to celebrate than to honor the passionate scientist who has perhaps single-handedly done more to advance breast cancer research than anyone else alive: Mary-Claire King, discoverer of the BRCA1 and BRCA2 genes. In recognition of her lifelong contributions, King was just awarded the prestigious William Allen Award, the top prize presented annually by the American Society of Human Genetics to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity. In a recent publication in…

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Thursday, May 23, 2019

Review: How Long-Read Sequencing Could Make a Difference in Medical Genetics

A recent review article published in Frontiers in Genetics offers a great look at the landscape of long-read sequencing. Authors Tuomo Mantere, Simone Kersten, and Alexander Hoischen from Radboud University Medical Center in the Netherlands focus on emerging applications in medical genetics for long-read technologies. “With the recently demonstrated success in identifying previously intractable DNA sequences and closing gaps in the human genome assemblies, long-read sequencing (LRS) technologies hold the promise to overcome specific limitations of NGS-based investigations of human diseases,” the scientists write. “LRS has the potential to grow into a technology that is used not only to produce…

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Thursday, April 4, 2019

Many Studies Show Causal Variant Discovery Potential of SMRT Sequencing

by Jonas Korlach, CSO It’s been really exciting to see a spate of publications coming out that demonstrate the utility of SMRT Sequencing for determining the underlying genetic cause of diseases that have long gone unsolved. Discovery of the pathogenic variants behind these diseases is not just academic progress; it can give answers to people who have been seeking them for years or even generations. Here are several recent examples of the great work happening in this area. Congratulations to these teams and all other scientists who are using SMRT Sequencing to advance our understanding of disease.   Mapping the…

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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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Wednesday, January 9, 2019

Scientists Resolve Epilepsy-Causing Repeat Expansion with Sequel System

Scientists in Japan report using the unique properties of SMRT Sequencing to detect a structural variant (SV) responsible for a hereditary form of epilepsy. The 4.6 kb intronic repeat insertion was found from low-coverage whole genome sequence data, leading the team to suggest that this approach could be useful for determining the genetic mechanisms behind many unexplained diseases. “Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases” comes from lead author Takeshi Mizuguchi, senior author Satoko Miyatake, and collaborators at Yokohama City University and the University of Occupational and Environmental Health School…

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