Author Archives: Alex

Assessing a single targeted next generation sequencing for human leukocyte antigen typing protocol for interoperability, as performed by users with variable experience

Posted on October 30, 2017 by Alex

October 2017 Authors: Manish Gandhi, Deborah Ferriola, Curt Lind, Jamie Duke, et al. Info: Scientists from the Mayo Clinic, Children’s Hospital of Philadelphia, and other institutions teamed up to develop a streamlined, NGS-based HLA typing protocol. This method uses the … more »

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Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient

Posted on October 30, 2017 by Alex

October 2017 Authors: Yun-Ji Kim, Byulee Yoon, Kyudong Han, Byung Cheol Park Info: Scientists in Korea compared transcriptomes of RNA extracted from balding and non-balding scalp regions on the same patient to understand the genetics of hair loss. They found … more »

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Tracking Chikungunya: New Study Traces Outbreak Path

Posted on October 25, 2017 by Alex

A team of scientists in Brazil, along with collaborators in the U.S. and Europe, used diagnostics and metagenomic sequencing to reconstruct the transmission path of a recent outbreak of chikungunya virus in Maceió. We were honored to donate some lab … more »

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Spread of Chikungunya Virus East/Central/South African Genotype in Northeast Brazil

Posted on October 25, 2017 by Alex

October 2017 Authors: Antonio Charlys da Costa, Julien Thézé, Shirley Cavalcante Vasconcelos Komninakis, Rodrigo Lopes Sanz-Duro, et al. Info: Scientists in Brazil and collaborators in the U.S. and Europe traced the transmission path of a recent chikungunya virus outbreak. They … more »

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Large Variants and Even Larger Cohorts: Recapping ASHG

Posted on October 23, 2017 by Alex

We had a blast as ASHG last week, and wanted to thank all the attendees who stopped by our booth. We were delighted to meet you all! If you couldn’t make it to ASHG, a couple of running themes dominated … more »

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ASHG 2017: Big Studies, Big Names, and Big DNA

Posted on October 12, 2017 by Alex

We can’t wait for the annual meeting of the American Society of Human Genetics next week! The Sage Science team will be heading to Orlando to catch up on cutting-edge genome science with several thousand of our nearest and dearest … more »

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Circulating Tumor DNA Easier to Spot with Size Selection

Posted on October 10, 2017 by Alex

A bioRxiv preprint from scientists at Cancer Research UK and Cambridge University Hospitals offers a look at how DNA size selection can be used to enhance results of circulating tumor DNA studies. Their analysis indicates that adding a simple sizing … more »

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Poster: Gauging Repeat Expansion Size Quickly for Clinical Use

Posted on October 6, 2017 by Alex

Patients with hereditary ALS-FTLD (Lou Gehrig’s disease, marked by frontotemporal lobar degeneration) typically have a hexanucleotide repeat expansion in C9orf72. The size of that repeat expansion can be indicative of age of onset, severity of symptoms, and more, so it’s … more »

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It’s Baaack! Festival of Genomics Returns to Beantown

Posted on September 28, 2017 by Alex

It’s time for a genomics party! The Festival of Genomics returns to Boston next week, and we’re already looking forward to it. Sage is proud to be a sponsor and exhibitor at this great event, which brings together more than … more »

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Micro RNA’s (miRNA’s) may help explain expression of multiple genes in Alzheimer’s Frontal Cortex

Posted on September 20, 2017 by Alex

September 2017 Authors: James Bennett and Paula Keeney Info: Scientists from Neurodegeneration Therapeutics used RNA-seq to compare microRNAs found in Alzheimer’s brain samples and controls. They identified 55 up-regulated genes and 191 down-regulated genes in the Alzheimer’s samples. PippinHT was … more »

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