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Instructions for recreating the elPrep 4.0.0 WES benchmarks v1
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This protocol describes how to recreate the elPrep 4.0.0 benchmarks for WES data.
Title: Instructions for recreating the elPrep 4.0.0 WES benchmarks v1
Description:
This protocol describes how to recreate the elPrep 4.
0 benchmarks for WES data.
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Instructions for recreating elPrep 4.0.0 WES benchmarks v1
Instructions for recreating elPrep 4.0.0 WES benchmarks v1
Instructions for recreating the elPrep4.0.0 WES benchmarks used in the following paper: Herzeel C, Costanza P, Decap D, Fostier J, Verachtert W. elPrep: A multithreaded framework ...
Diagnostic impact of secondary findings from whole genome or whole exome sequencing in patients diagnosed with genetic eye disorders
Diagnostic impact of secondary findings from whole genome or whole exome sequencing in patients diagnosed with genetic eye disorders
Abstract
Purpose
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AbstractObjectiveTo explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis and ascertain what influenced their decision‐making to undergo testing.Metho...