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1 . Academic Journal
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
저자
by
Ambrose, J.C.
;
Arumugam, P.
;
Bevers, R.
;
Bleda, M.
;
Boardman-Pretty, F.
, et al.
소스
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Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
저자
by
Byrne, Alicia
;
Spurdle, Amanda
;
Palculict, Blake
;
Coe, Bradley
;
Deqiong, Ma
, et al.
소스
In
Genetics in Medicine
March 2024 26(3)
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7 . Academic Journal
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
저자
by
Roberts, Angharad M.
;
DiStefano, Marina T.
;
Riggs, Erin Rooney
;
Josephs, Katherine S.
;
Alkuraya, Fowzan S.
, et al.
소스
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Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
저자
by
Lemire, Gabrielle
;
Sanchis-Juan, Alba
;
Russell, Kathryn
;
Baxter, Samantha
;
Chao, Katherine R.
, et al.
소스
In
The American Journal of Human Genetics
2 May 2024 111(5):863-876
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7 . Academic Journal
Will variants of uncertain significance still exist in 2030?
저자
by
Fowler, Douglas M.
;
Rehm, Heidi L.
.
소스
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The American Journal of Human Genetics
4 January 2024 111(1):5-10
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4 . Academic Journal
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
저자
by
Biesecker, Leslie G.
;
Byrne, Alicia B.
;
Harrison, Steven M.
;
Pesaran, Tina
;
Schäffer, Alejandro A.
, et al.
소스
In
The American Journal of Human Genetics
4 January 2024 111(1):24-38
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7 . Academic Journal
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Marshall, Christian
;
Meng, Linyan
;
Jobanputra, Vaidehi
;
Taft, Ryan
;
Ashley, Euan
, et al.
소스
In
Genetics in Medicine
December 2023 25(12)
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7 . Academic Journal
Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States
저자
by
Hull, Leland E.
;
Flannery, Kelsey
;
Kaimal, Anjali
;
Sepucha, Karen
;
Rehm, Heidi L.
, et al.
소스
In
Genetics in Medicine
December 2023 25(12)
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7 . Academic Journal
An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks
저자
by
Kirby, Hannah G.
;
Rehm, Heidi L.
;
Hull, Leland E.
.
소스
In
Mayo Clinic Proceedings
October 2023 98(10):1529-1543
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5 . Academic Journal
Aligning NIH’s existing data use restrictions to the GA4GH DUO standard
저자
by
Lawson, Jonathan
;
Ghanaim, Elena M.
;
Baek, Jinyoung
;
Lee, Harin
;
Rehm, Heidi L.
.
소스
In
Cell Genomics
13 September 2023 3(9)
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