Monthly Archives: October 2017

De Novo Assembly of a New Solanum pennellii Accession Using Nanopore Sequencing

Posted on October 31, 2017 by Alex

October 2017 Authors: Maximilian Schmidt, Alxander Vogel, Alisandra Denton, Benjamin Istace, et al. Info: Scientists used Oxford Nanopore technology to sequence Solanum pennellii, a wild species of tomato. They generated a median read length of nearly 12 Kb and produced … more »

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Podcast: Genome Assembly Guru Deanna Church on Linked Reads and Single-Cell Genomics

Posted on October 31, 2017 by Alex

If you’ve ever relied on the human reference genome, don’t miss this podcast with assembly pioneer Deanna Church. Mendelspod’s Theral Timpson interviews the genome informatics expert who made her name as an integral part of the reference project at the … more »

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A high-quality genome assembly of quinoa provides insights into the molecular basis of salt bladder-based salinity tolerance and the exceptional nutritional value

Posted on October 31, 2017 by Alex

October 2017 Authors: Changsong Zou, Aojun Chen, Lihong Xiao, Heike Muller, et al. Info: Scientists deployed several sequencing platforms to characterize the genome of Chenopodium quinoa, an important and highly nutritious cereal crop. They analyzed the assembly to better understand … more »

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Identification of Differentially Expressed Splice Variants by the Proteogenomic Pipeline Splicify

Posted on October 30, 2017 by Alex

October 2017 Authors: Malgorzata Komor, Thang Pham, Annemieke Hiemstra, Sander Piersma, et al. Info: In this paper, scientists from the Netherlands Cancer Institute, VU University Medical Center, and other institutions describe results from a new pipeline to detect differentially expressed … more »

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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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