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Short reads on outstanding genetics projects made possible by long-read sequencing
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A Genome Fit for a Giant — Sequencing the California Redwood
A Genome Fit for a Giant — Sequencing the California Redwood
This is a guest post by Michelle Vierra (@the_mvierra)
Liz T
Mar 4, 2020
HiFi Assembler Series, Part 2: HiCanu, near optimal repeat resolution using HiFi reads
HiFi Assembler Series, Part 2: HiCanu, near optimal repeat resolution using HiFi reads
NOTE 1: This is a four-part series on genome assemblers using PacBio HiFi reads. Read part 1 on hifiasm here.
Liz T
Feb 20, 2020
HiFi Assembler Series, Part 1: hifiasm, a fast, haplotype-resolved genome assembler
HiFi Assembler Series, Part 1: hifiasm, a fast, haplotype-resolved genome assembler
NOTE 1: This is a four-part series on genome assemblers using PacBio HiFi reads.
Liz T
Feb 11, 2020
Hidden in Plain Sight — A Bioinformatics Journey into Structural Variation Calling in the Long…
Hidden in Plain Sight — A Bioinformatics Journey into Structural Variation Calling in the Long…
I first met Fritz Sedlazeck (@sedlazeck) in 2015 at the American Society of Human Genetics (ASHG) meeting. It was at a bar in Baltimore…
Liz T
Jan 20, 2020
Your Drug Mileage May Vary: The PIK3CA Double Mutation Story
Your Drug Mileage May Vary: The PIK3CA Double Mutation Story
“People have studied the PIK3CA gene for 20 years, yet no one has looked into how double mutations of the gene affects drug response in…
Liz T
Dec 18, 2019
Finding Diagnosis in a Sea of Transcripts: The Case of a Hypertrophic Cardiomyopathy Patient
Finding Diagnosis in a Sea of Transcripts: The Case of a Hypertrophic Cardiomyopathy Patient
Most of the time, genetic diagnosis is about the genome, not the transcriptome. Since many of the genetic causes for diseases are already…
Liz T
Sep 23, 2019
Bear-ing Witness to an Extraordinary Research Center
Bear-ing Witness to an Extraordinary Research Center
Three Days at the WSU Bear Facility
PacBio
Aug 20, 2019
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