Research map: Variant Curation and Classification in Rare Disease Genomics: Standards and Emerging Tools for Single-Nucleotide Variant Analysis

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  11. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion · Ahmad N. Abou Tayoun · 2018 · 948 citations · Cited by this paper
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  13. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 · C. Sue Richards · 2008 · 837 citations · Cited by this paper
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  15. Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria · Keith Nykamp · 2017 · 783 citations · Cited by this paper
  16. Development and Validation of a Dietary Adherence Index for Mexican Women Based on the Mexican Dietary Guidelines 2023 · 2026 · Related
  17. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) · Kandamurugu Manickam · 2021 · 663 citations · Cited by this paper
  18. Association between Physical Activity and Accelerated Aging Using S-Anthropoage: A Secondary Analysis of the Mexican Health and Aging Study · 2026 · Related
  19. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework · Sean V. Tavtigian · 2018 · 651 citations · Cited by this paper
  20. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria · Vikas Rao Pejaver · 2022 · 598 citations · Cited by this paper
  21. Using high-resolution variant frequencies to empower clinical genome interpretation · Nicola Whiffin · 2017 · 483 citations · Cited by this paper
  22. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup · Logan C. Walker · 2023 · 357 citations · Cited by this paper
  23. The ACMG/AMP reputable source criteria for the interpretation of sequence variants · Leslie G. Biesecker · 2018 · 292 citations · Cited by this paper
  24. Whole genome sequencing in clinical practice · Frederik Otzen Bagger · 2024 · 181 citations · Cited by this paper
  25. Diagnostically relevant facial gestalt information from ordinary photos · Quentin R. V. Ferry · 2014 · 173 citations · Cited by this paper
  26. The LOVD3 platform: efficient genome-wide sharing of genetic variants · Ivo F.A.C. Fokkema · 2021 · 159 citations · Cited by this paper
  27. A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data · Deborah J. Thompson · 2003 · 143 citations · Cited by this paper
  28. An Atlas of Variant Effects to understand the genome at nucleotide resolution · Douglas M. Fowler · 2023 · 132 citations · Cited by this paper
  29. A deep catalogue of protein-coding variation in 983,578 individuals · Kathie Sun · 2024 · 119 citations · Cited by this paper
  30. Exome sequencing explained: a practical guide to its clinical application · Eleanor G. Seaby · 2015 · 115 citations · Cited by this paper
  31. Will variants of uncertain significance still exist in 2030? · Douglas M. Fowler · 2023 · 109 citations · Cited by this paper
  32. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification · Leslie G. Biesecker · 2023 · 104 citations · Cited by this paper
  33. Stepwise ABC system for classification of any type of genetic variant · Gunnar Houge · 2021 · 102 citations · Cited by this paper
  34. ACMG recommendations for standards for interpretation of sequence variations · Haig H. Kazazian · 2000 · 83 citations · Cited by this paper
  35. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework · Alexander J.M. Dingemans · 2023 · 80 citations · Cited by this paper
  36. MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays · Alan F. Rubin · 2025 · 80 citations · Cited by this paper
  37. The Human Variome Project · Richard G.H. Cotton · 2008 · 71 citations · Cited by this paper
  38. Variant reclassification and clinical implications · Nicola Walsh · 2024 · 70 citations · Cited by this paper
  39. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods · Shantanu Jain · 2024 · 68 citations · Cited by this paper

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