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Articles by Guy Kelman
Functional characterization of bat limb regulatory elements
NA is a cofounder and on the scientific advisory board of Regel Therapeutics Inc. NA received funding from BioMarin Pharmaceutical Incorporate. The remaining authors declare no competing interests.
Dynamic enhancer landscapes in human craniofacial development - Nature Communications
Abstract The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies.
PWAS Hub: Exploring Gene-Based Associations of Common Complex Diseases
The authors have declared no competing interest. This study was supported by the ISF grant 2753/20 (M.L.) on Sex-dependent genetics, and a grant for large-scale data analysis from the Center for Interdisciplinary Data Science Research (CIDR, #3035000440) at the Hebrew University, Jerusalem (M.L.). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
The FABRIC Cancer Portal: A Ranked Catalogue of Gene Selection in Tumors Over the Human Coding Genome
Resource Reports Guy Kelman, Nadav Brandes and Michal Linial DOI: 10.1158/0008-5472.CAN-20-3147 Published February 2021 This article requires a subscription to view the full text. You may purchase access to this article or login to access your subscription using the links below. Abstract Contemporary catalogues of cancer driver genes rely primarily on high mutation rates as evidence for gene selection in tumors.
The FABRIC Cancer Portal: A Ranked Catalogue of Gene Selection in Tumors over the Human Coding Genome
Resource Report Guy Kelman, Nadav Brandes and Michal Linial DOI: 10.1158/0008-5472.CAN-20-3147 Abstract Contemporary catalogues of cancer driver genes rely primarily on high mutation rates as evidence for gene selection in tumors. Here, we present The Functional Alteration Bias Recovery In Coding-regions Cancer Portal, a comprehensive catalogue of gene selection in cancer based purely on the biochemical functional effects of mutations at the protein level.
The FABRIC Cancer Portal: A Ranked Catalogue of Gene Selection in Tumors over the Human Coding Genome
Resource Report Guy Kelman, Nadav Brandes and Michal Linial DOI: 10.1158/0008-5472.CAN-20-3147 Abstract Contemporary catalogues of cancer driver genes rely primarily on high mutation rates as evidence for gene selection in tumors. Here we present The FABRIC Cancer Portal, a comprehensive catalogue of gene selection in cancer based purely on the biochemical functional effects of mutations at the protein level.
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants
Highlights • enSERT—a highly efficient CRISPR/Cas9-mediated site-specific transgenic mouse assay • In vivo assessment of all rare variants linked to polydactyly in a human enhancer • In vivo testing showed normal enhancer activity for 30% of presumed pathogenic variants • Systematic mutagenesis of this human enhancer identifies novel pathogenic variants Summary Establishing causal links between non-coding variants and human phenotypes is an increasing challenge.
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