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Front Cover, Volume 43, Issue 8.
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- Human Mutation, 2022, v. 43, n. 8, p. i, doi. 10.1002/humu.24442
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Issue Information.
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- Human Mutation, 2022, v. 43, n. 8, p. 971, doi. 10.1002/humu.24230
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Human Mutation special issue on "Variant Effect Prediction".
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- Human Mutation, 2022, v. 43, n. 8, p. 973, doi. 10.1002/humu.24429
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Variant calling: Considerations, practices, and developments.
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- Human Mutation, 2022, v. 43, n. 8, p. 976, doi. 10.1002/humu.24311
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Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial.
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- Human Mutation, 2022, v. 43, n. 8, p. 986, doi. 10.1002/humu.24298
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Variant interpretation: UCSC Genome Browser Recommended Track Sets.
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- Human Mutation, 2022, v. 43, n. 8, p. 998, doi. 10.1002/humu.24335
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Variant interpretation using population databases: Lessons from gnomAD.
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- Human Mutation, 2022, v. 43, n. 8, p. 1012, doi. 10.1002/humu.24309
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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification.
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- Human Mutation, 2022, v. 43, n. 8, p. 1031, doi. 10.1002/humu.24291
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Clinical exome sequencing—Mistakes and caveats.
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- Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360
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Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.
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- Human Mutation, 2022, v. 43, n. 8, p. 1056, doi. 10.1002/humu.24416
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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.
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- Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380
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Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases.
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- Human Mutation, 2022, v. 43, n. 8, p. 1082, doi. 10.1002/humu.24367
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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
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- Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280
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Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.
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- Human Mutation, 2022, v. 43, n. 8, p. 1097, doi. 10.1002/humu.24302
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Harmonizing variant classification for return of results in the All of Us Research Program.
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- Human Mutation, 2022, v. 43, n. 8, p. 1114, doi. 10.1002/humu.24317
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