Paper Details

Paper Title

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.

Paper Journal Title

medRxiv

Paper Citation Count

Paper Publication Year

2023

Bio Mention

ClinVar benign variants, PVS1, autosomal recessive disease, autosomal recessive disease-genes, cryptic, exon, homopolymer repeat, loss of function (pLoF) variants, pLoF variants, secondary sequence

Mesh Descriptor

Author Name	Affiliation
Moriel Singer-Berk	Broad Institute of MIT and Harvard
Moriel Singer-Berk	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Samantha Baxter	Broad Institute of MIT and Harvard
Samantha Baxter	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Samantha Baxter	Broad Institute of MIT and Harvard
Samantha Baxter	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Eleanor G Seaby	Broad Institute of MIT and Harvard
Eleanor G Seaby	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Eleanor G Seaby	Boston Children's Hospital, Harvard Medical School
Eleanor G Seaby	University Hospital Southampton
Eleina England	Broad Institute of MIT and Harvard
Eleina England	Boston Children's Hospital, Harvard Medical School
Eleina England	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Rachel G Son	Broad Institute of MIT and Harvard
Nicholas A Watts	Broad Institute of MIT and Harvard
Konrad J Karczewski	Broad Institute of MIT and Harvard
Konrad J Karczewski	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Konrad J Karczewski	Broad Institute of MIT and Harvard
Konrad J Karczewski	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Daniel G MacArthur	Broad Institute of MIT and Harvard
Daniel G MacArthur	Murdoch Children's Research Institute
Daniel G MacArthur	Garvan Institute of Medical Research and UNSW Sydney
Daniel G MacArthur	Broad Institute of MIT and Harvard
Daniel G MacArthur	Garvan Institute of Medical Research and UNSW Sydney
Daniel G MacArthur	Murdoch Children's Research Institute
Heidi L Rehm	Broad Institute of MIT and Harvard
Heidi L Rehm	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Heidi L Rehm	Broad Institute of MIT and Harvard
Heidi L Rehm	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Anne O'Donnell-Luria	Boston Children's Hospital, Harvard Medical School
Anne O'Donnell-Luria	Broad Institute of MIT and Harvard
Anne O'Donnell-Luria	Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Anne O'Donnell-Luria	Boston Children's Hospital, Harvard Medical School

1 - 35

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

1 - 15

Paper Details

Column Actions

Datasets