sv_detection

July 2024

A structural variant catalog for All of Us

By Laura Smith|2024-09-06T14:37:13-04:00July 6th, 2024|Categories: Announcements|Tags: All of Us, AoU, sv, sv_detection|

The Broad Institute's All of Us (AoU) Genome Center and All of Us Data and Research Center have led multiple aspects of variant discovery and data releases for this national biobank initiative. In June 2024, the laboratory of institute member and All of Us Co-I Mike Talkowski, including Emma Pierce-Hoffman, Mark Walker, Harrison Brand, Chris Whelan, [...]

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October 2022

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Publication

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

By Steph Hao|2023-05-10T15:13:14-04:00October 5th, 2022|Categories: Publication|Tags: sequencing_technologies, sv, sv_detection|

In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole genome sequencing (WGS), in discovering genomic structural variation (SV). Our study revealed that albeit the over two-fold increase in the power of SV discovery by long-read sequences when compared against short reads, vast majority of [...]

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