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Thursday, December 31, 2020

The Most Wonderful Webinars of the Year

The year the world went virtual is virtually over, so what better time to reflect on all the great online offerings featuring SMRT Sequencing this year. While we would have rather gathered in exotic locales to see you in person and share our science, 2020 did provide some amazing opportunities to go global and broadcast worldwide.  Here are some of the highlights:   Sequencing 101: How Long-Read Sequencing Improves Access to Genetic Information What better place to start than with an introduction to our technology, followed by a panel of sequencing experts — Melissa Laird-Smith (@SmithLab_UofL), Michael Hartigan, and Olga…

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Tuesday, December 29, 2020

A Glimpse into the Gut: HiFi Sequencing Enables Strain-Level Study of Intestinal and Breastmilk Microbiota in Celiac Disease

SMRT Grant winner Ali R. Zomorrodi of Harvard Medical School Celiac disease happens in the gut, but scientists still don’t fully understand the complex interplay between host genetics and the environmental factors that lead to the development of the autoimmune digestive disease. Researchers at the Mucosal Immunology and Biology Research Center of MassGeneral Hospital for Children and Harvard Medical School are hoping to shed light on the ‘microbial dark matter’ in the breastmilk of mothers with celiac disease and in the intestine of celiac children using full-length 16S rRNA and metagenome sequencing — they will be supported in their efforts…

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Wednesday, December 16, 2020

With Highly Accurate Variant Calling and Phasing, SMRT Sequencing Advances PGx Studies of SLC6A4

Scientists at Stanford University and the Icahn School of Medicine at Mount Sinai have made impressive strides in resolving variants in the SLC6A4 promoter associated with susceptibility to psychiatric disorders and response to antidepressants. This progress was made possible with highly accurate, long-read sequencing, known as HiFi sequencing. Published in the journal Genes, the paper comes from lead author Mariana Botton, senior author Stuart Scott, and collaborators. It describes a SMRT Sequencing-based approach to analyzing amplicons of the SLC6A4 promoter region, which is noted for “a variable number of homologous 20–24 bp repeats,” the authors write, as well as long, extra-long,…

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Monday, December 14, 2020

SMRT Sequencing Offers a Universal Approach for Thalassemia Carrier Testing

Scientists in China have used SMRT Sequencing to demonstrate the value of highly accurate long reads for identifying, linking, and phasing variants associated with a group of blood disorders known collectively as thalassemia. Ultimately, they predict in the Journal of Molecular Diagnostics, long-read sequencing could support a new carrier screening approach for prospective parents interested in knowing their risk of passing these diseases on to their children. “Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers” comes from lead authors Liangpu Xu, Aiping Mao, and Hui Liu and collaborators at…

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Thursday, December 10, 2020

Sequencing 101: Ploidy, Haplotypes, and Phasing – How to Get More from Your Sequencing Data

The ploidy or number of copies of each chromosome in a genome affects not only the size but also the complexity of the genome. Geneticists often point out that a human does not have “a” genome but rather two genomes, one inherited from the mother and another from the father. The number of complete sets of chromosomes in each cell, or haplotypes, is referred to as ploidy.  Humans and most other animals are diploid (2N), having two sets. Many plants have higher ploidy, for example, the hexaploid (6N) California Redwood has 6 copies of each chromosome. The number of chromosome…

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