October 2022

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

By |2022-10-31T15:35:41-04:00October 31st, 2022|Categories: Publication|Tags: , , |

The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has been linked to neurodevelopmental disorders (NDDs). The paper, published in the American Journal of Human Genetics, is the first to describe the long-range effects of coding and non-coding MEF2C variants in human iPSCs derived neuronal [...]

Comments Off on Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

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

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

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 [...]

Comments Off on Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
© 2022 Talkowski Laboratory
Go to Top