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1 . 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
The impact of coding germline variants on contralateral breast cancer risk and survival
저자
by
Sahlberg, Kristine K.
;
Børresen-Dale, Anne-Lise
;
Gram, Inger Torhild
;
Olsen, Karina Standahl
;
Engebråten, Olav
, et al.
소스
In
The American Journal of Human Genetics
2 March 2023 110(3):475-486
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7 . Academic Journal
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
저자
by
Barnes, Daniel R.
;
Rookus, Matti A.
;
McGuffog, Lesley
;
Leslie, Goska
;
Mooij, Thea M.
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1653-1666
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7 . Academic Journal
P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants
저자
by
Rotenberg, Nitsan
;
Ramadane-Morchadi, Lobna
;
Varga, Matthew
;
Chamberlin, Adam
;
Richardson, Marcy
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
저자
by
Parsons, Michael
;
Anderson, Michael
;
Berkofsky-Fessler, Windy
;
Caputo, Sandrine
;
Chan, Raymond
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel
저자
by
Holdren, Megan
;
Richardson, Marcy
;
Ritter, Deborah
;
Young, Colin
;
Brannan, Terra
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Periodical
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
저자
by
Bournazos, Adam M.
;
Riley, Lisa G.
;
Bommireddipalli, Shobhana
;
Ades, Lesley
;
Akesson, Lauren S.
, et al.
소스
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p
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7 . Periodical
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
저자
by
Schmidt, Ryan J.
;
Steeves, Marcie
;
Bayrak-Toydemir, Pinar
;
Benson, Katherine A.
;
Coe, Bradley P.
, et al.
소스
Genetics in Medicine; March 2024, Vol. 26 Issue: 3
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7 . Periodical
The effect of sample size on polygenic hazard models for prostate cancer
저자
by
Karunamuni, Roshan A.
;
Huynh-Le, Minh-Phuong
;
Fan, Chun C.
;
Eeles, Rosalind A.
;
Easton, Douglas F.
, et al.
소스
European Journal of Human Genetics: EJHG; October 2020, Vol. 28 Issue: 10 p1467-1475, 9p
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7 . Periodical
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1and BRCA2pathogenic variants
저자
by
Barnes, Daniel R.
;
Rookus, Matti A.
;
McGuffog, Lesley
;
Leslie, Goska
;
Mooij, Thea M.
, et al.
소스
Genetics in Medicine; October 2020, Vol. 22 Issue: 10 p1653-1666, 14p
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