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1 . Academic Journal
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
저자
by
Harrison Brand
;
Xuefang Zhao
;
Jack Fu
;
Ryan Collins
;
Isaac Wong
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101015- (2024)
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7 . Academic Journal
P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates
저자
by
Samantha Baxter
;
Moriel Singer-Berk
;
Kathryn Russell
;
Mutaz Amin
;
Carmen Glaze
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101035- (2024)
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7 . Academic Journal
P155: The ClinGen framework for naming monogenic diseases
저자
by
Courtney Thaxton
;
Leslie Biesecker
;
Marina DiStefano
;
Melissa Haendel
;
Emma Owens
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101052- (2024)
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7 . Academic Journal
O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
저자
by
Heidi Rehm
;
Julia Goodrich
;
Katherine Chao
;
Kristen Laricchia
;
Michael Wilson
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101475- (2024)
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7 . Academic Journal
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease
저자
by
Christina Austin-Tse
;
Stephanie DiTroia
;
Melanie O'Leary
;
Grace VanNoy
;
Brian Mangilog
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
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7 . Academic Journal
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition
저자
by
Marina DiStefano
;
Fowzan Alkuraya
;
Joanna Amberger
;
Christina Austin-Tse
;
Ola Austine
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
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7 . Academic Journal
P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
저자
by
Leslie Biesecker
;
Alicia Byrne
;
Steven Harrison
;
Tina Pesaran
;
Alejandro Schäffer
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101616- (2024)
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7 . Academic Journal
P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics
저자
by
Samantha Baxter
;
Moriel Singer-Berk
;
Kathryn Russell
;
Emily Groopman
;
Nicholas Watts
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100143- (2023)
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7 . Academic Journal
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
저자
by
Matthew Lebo
;
Marcie Steeves
;
Katherine Benson
;
Laura Conlin
;
Mythily Ganapathi
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100457- (2023)
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7 . Academic Journal
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
저자
by
Marina DiStefano
;
Joanna Amberger
;
Christina Austin-Tse
;
Marie Balzotti
;
Mutaz Amin
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
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