SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant

Summary

This is a publication. If there is no link to the publication on this page, you can try the pre-formated search via the search engines listed on this page.

Authors: Renee Salz, Nuno Saraiva-Agostinho, Emil Vorsteveld, Caspar I. van der Made, Simone Kersten, Merel Stemerdink, Jamie Allen, Pieter-Jan Volders, Sarah E. Hunt, Alexander Hoischen, Peter A.C. ’t Hoen

Journal title: BARI RD conference

Journal publisher: CSHL

Published year: 2022

DOI identifier: 10.1101/2022.10.23.513417