Paper Details

Paper Title

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

Paper Journal Title

Am J Hum Genet

Paper Citation Count

Paper Publication Year

2019

Bio Mention

Man, OMIM, Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Man (OMIM) genes, disease-associated genes, epileptic encephalopathy, exonic sub-regions, gene, genes, human, sub

Mesh Descriptor

Author Name	Affiliation
Brett Copeland	Institute for Genomic Medicine, Columbia University
David B Goldstein	Institute for Genomic Medicine, Columbia University
David B Goldstein	Institute for Genomic Medicine, Columbia University
Andrew S Allen	Institute for Genomic Medicine, Columbia University, Duke University, USA Duke Center for Statistical Genetics and Genomics

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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