A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

By D. Smedley, Max Schubach, Julius O. B. Jacobsen, Sebastian Köhler, T. Żemojtel, M. Spielmann, M. Jäger, H. Hochheiser, Nicole L. Washington, J. McMurry and 6 more. 2016

252 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Mark Yandell
2. Karen Eilbeck
3. Aaron R. Quinlan

In Molecular Biology

1. Doron Lancet
2. Mark Yandell
3. Karen Eilbeck
4. Aaron R. Quinlan
5. Mark Borodovsky
6. Jerzy K. Kulski

Citations in the corpus

• Settling the score: variant prioritization and Mendelian disease (2017, background): “Although many new approaches are being developed 39,94,95 , there is simply insufficient understanding of the regulatory machinery encrypted in non-coding DNA to prioritize non-coding variants with similar accuracy to that of coding variants 94 .”
• GeneHancer: genome-wide integration of enhancers and target genes in GeneCards (2017, background): “Our analyses encompassed three groups of such cases: (i) a set of 132 non-coding regulatory regions that harbor variants associated with Mendelian diseases, identified by manual curation of the literature (48) (Supplementary Table S3); (ii) a set of 22 in Page 8 of 17 Database, Vol.”