Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

被引：0
|
作者：
Kozaric, Amina [1 ,2 ]
Delalic, Lejla [1 ]
Mutapcic, Belma [1 ,2 ]
Comor, Lejla [1 ]
Siciliano, Eric [1 ]
Kiel, Mark [1 ]
机构：
[1] Genomenon Inc, Ann Arbor, MI USA
[2] Int Burch Univ, Ilidza, Bosnia & Herceg
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P15.066.C
引用
收藏
页码：1611 / 1611
页数：1
相关论文
共 50 条
  • [41] Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model
    Bayrak-Toydemir, Pinar
    McDonald, Jamie
    Mao, Rong
    Phansalkar, Amit
    Gedge, Friederike
    Robles, Jorge
    Goldgar, David
    Lyon, Elaine
    EXPERIMENTAL AND MOLECULAR PATHOLOGY, 2008, 85 (01) : 45 - 49
  • [42] EVALUATION OF PROBABILISTIC PREDICTIONS - A COMPREHENSIVE FRAMEWORK
    MURPHY, AH
    BULLETIN OF THE AMERICAN METEOROLOGICAL SOCIETY, 1967, 48 (08) : 601 - &
  • [43] To offer or request? Disclosing variants of uncertain significance in prenatal testing
    Watts, Gabriel
    Newson, Ainsley J.
    BIOETHICS, 2021, 35 (09) : 900 - 909
  • [44] Histologic Characteristics of Breast Carcinomas with Genetic Variants of Uncertain Significance
    Abdulrahman, Ahmed
    Heintzelman, Rebecca
    Corbman, Melanie
    Garcia, Fernando
    MODERN PATHOLOGY, 2016, 29 : 28A - 28A
  • [45] A novel clinic to resolve variants of uncertain significance in neuromuscular patients
    Johnson, K.
    Schneider, T.
    Babaian, N.
    Azage, M.
    McIntosh, P.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [46] The Challenge of Genetic Variants of Uncertain Clinical Significance A Narrative Review
    Burke, Wylie
    Parens, Erik
    Chung, Wendy K.
    Berger, Sara M.
    Appelbaum, Paul S.
    ANNALS OF INTERNAL MEDICINE, 2022, 175 (07) : 994 - +
  • [47] Patients' perspectives of variants of uncertain significance and strategies for uncertainty management
    Makhnoon, Sukh
    Shirts, Brian H.
    Bowen, Deborah J.
    JOURNAL OF GENETIC COUNSELING, 2019, 28 (02) : 313 - 325
  • [48] Variants of uncertain significance in the era of next-generation sequencing
    Levkova, Mariya
    Stoyanova, Milena
    Benkova-Petrova, Miroslava
    Georgieva, Miglena
    Angelova, Lyudmila
    JOURNAL OF THE AMERICAN ASSOCIATION OF NURSE PRACTITIONERS, 2022, 34 (08) : 1018 - 1021
  • [49] Machine learning models for accurate prioritization of variants of uncertain significance
    Mahecha, Daniel
    Nunez, Haydemar
    Lattig, Maria C.
    Duitama, Jorge
    HUMAN MUTATION, 2022, 43 (04) : 449 - 460
  • [50] ASSESSMENT AND INTERPRETATION OF VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) IN FAMILIAL HYPERCHOLESTEROLAEMIA
    Watson, E.
    Hills, A.
    Honeychurch, J.
    Williams, M.
    ATHEROSCLEROSIS, 2016, 245 : E251 - E251
12345