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Article
Comparison and imputation-aided integration of five commercial platforms for targeted DNA methylome analysis
Targeted bisulfite sequencing (TBS) has become the method of choice for the cost-effective, targeted analysis of the human methylome at base-pair resolution. In this study, we benchmarked five commercially ava...
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Article
Open AccessThe Personal Genome Project-UK, an open access resource of human multi-omics data
Integrative analysis of multi-omics data is a powerful approach for gaining functional insights into biological and medical processes. Conducting these multifaceted analyses on human samples is often complicat...
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Protocol
Correction to: Choosing the Best Gene Predictions with GeneValidator
This book was published with References 17 and 18 in the incorrect order.
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Protocol
Choosing the Best Gene Predictions with GeneValidator
GeneValidator is a tool for determining whether the characteristics of newly predicted protein-coding genes are consistent with those of similar sequences in public databases. For this, it runs up to seven com...
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Article
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract
Congenital cataract, opacification of the ocular lens, is clinically and genetically a heterogeneous childhood disease. In this study we aimed to identify the underlying genetic cause of isolated autosomal-dom...
