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Shilpa Nadimpalli Kobren

Showing results (1-10 of 13) with videos related to

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Nucleic Acids Research|December 12, 2018
Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positionsShilpa Nadimpalli Kobren, Mona Singh
Cell Systems|July 27, 2020
PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and FunctionalitiesShilpa Nadimpalli Kobren, Bernard Chazelle, Mona Singh
Biodata Mining|January 17, 2025
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patientsLane Fitzsimmons, , Brett Beaulieu-Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2024
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanismsLane Fitzsimmons, , Brett Beaulieu-Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2024
VarPPUD: Variant post prioritization developed for undiagnosed genetic disordersRui Yin, Alba Gutierrez, , et al.
Plos Computational Biology|September 22, 2025
VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variantsRui Yin, Alba Gutiérrez-Sacristán, , et al.
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Nature Biomedical Engineering|April 14, 2026
Phenotypic prediction of missense variants via deep contrastive learningJun Wen, Sihang Zeng, Clara-Lea Bonzel, et al.
Biorxiv : the Preprint Server for Biology|February 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsShilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Nucleic Acids Research|December 12, 2018
Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positionsShilpa Nadimpalli Kobren, Mona Singh
Cell Systems|July 27, 2020
PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and FunctionalitiesShilpa Nadimpalli Kobren, Bernard Chazelle, Mona Singh
Biodata Mining|January 17, 2025
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patientsLane Fitzsimmons, , Brett Beaulieu-Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2024
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanismsLane Fitzsimmons, , Brett Beaulieu-Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2024
VarPPUD: Variant post prioritization developed for undiagnosed genetic disordersRui Yin, Alba Gutierrez, , et al.
Plos Computational Biology|September 22, 2025
VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variantsRui Yin, Alba Gutiérrez-Sacristán, , et al.
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Nature Biomedical Engineering|April 14, 2026
Phenotypic prediction of missense variants via deep contrastive learningJun Wen, Sihang Zeng, Clara-Lea Bonzel, et al.
Biorxiv : the Preprint Server for Biology|February 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsShilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, et al.
Pageof 2