Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 10
Results: 12
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features.
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- 2022
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- Correction Notice
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations.
- Published in:
- 2022
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- Correction Notice
Computational interpretation of human genetic variation.
- Published in:
- Human Genetics, 2022, v. 141, n. 10, p. 1545, doi. 10.1007/s00439-022-02483-4
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- Article
Genome interpretation using in silico predictors of variant impact.
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- Human Genetics, 2022, v. 141, n. 10, p. 1549, doi. 10.1007/s00439-022-02457-6
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- Article
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing.
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- Human Genetics, 2022, v. 141, n. 10, p. 1615, doi. 10.1007/s00439-022-02450-z
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- Article
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks.
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- Human Genetics, 2022, v. 141, n. 10, p. 1673, doi. 10.1007/s00439-021-02423-8
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- Article
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants.
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- Human Genetics, 2022, v. 141, n. 10, p. 1649, doi. 10.1007/s00439-021-02419-4
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- Article
Embeddings from protein language models predict conservation and variant effects.
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- Human Genetics, 2022, v. 141, n. 10, p. 1629, doi. 10.1007/s00439-021-02411-y
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- Article
Disease-associated human genetic variation through the lens of precursor and mature RNA structure.
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- Human Genetics, 2022, v. 141, n. 10, p. 1659, doi. 10.1007/s00439-021-02395-9
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- Article
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
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- Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
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- Article
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
- Published in:
- Human Genetics, 2022, v. 141, n. 10, p. 1595, doi. 10.1007/s00439-021-02356-2
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- Article