Volume 141, Issue 10

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October 2022

Special issue on Computational Interpretation of Human Genetic Variation

Issue Editors:

Predrag Radivojac,
Yana Bromberg

12 articles in this issue

Computational interpretation of human genetic variation
Yana Bromberg
Predrag Radivojac
Editorial 23 September 2022 Pages: 1545 - 1548
Part of 1 collection:

Computational Interpretation of Human Genetic Variation
Genome interpretation using in silico predictors of variant impact
Panagiotis Katsonis
Kevin Wilhelm
Olivier Lichtarge
Review Open access 30 April 2022 Pages: 1549 - 1577
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
Georgia Sarquella-Brugada
Anna Fernandez-Falgueras
Oscar Campuzano
Original Investigation Open access 21 September 2021 Pages: 1579 - 1589
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
Hong Sun
Xiaoping Lan
Junmei Zhou
Publisher Correction 24 September 2022 Pages: 1591 - 1591
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
Kivilcim Ozturk
Hannah Carter
Publisher Correction Open access 24 September 2022 Pages: 1593 - 1593
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models
Yuxiang Jiang
Jorge Urresti
Predrag Radivojac
Original Investigation 22 September 2021 Pages: 1595 - 1613
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing
Siqi Sun
Maximilian Miller
Jinchuan Xing
Original Investigation 26 March 2022 Pages: 1615 - 1627
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Embeddings from protein language models predict conservation and variant effects
Céline Marquet
Michael Heinzinger
Burkhard Rost
Original Investigation Open access 30 December 2021 Pages: 1629 - 1647
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants
Emidio Capriotti
Piero Fariselli
Original Article 31 January 2022 Pages: 1649 - 1658
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Disease-associated human genetic variation through the lens of precursor and mature RNA structure
Justin M. Waldern
Jayashree Kumar
Alain Laederach
Review 06 November 2021 Pages: 1659 - 1672
Part of 2 collections:

Computational Interpretation of Human Genetic Variation

Computational Interpretation of Human Genetic Variation
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks
Pablo Villegas-Mirón
Alicia Gallego
Yolanda Espinosa-Parrilla
Original Investigation Open access 06 March 2022 Pages: 1673 - 1693
Part of 1 collection:

Computational Interpretation of Human Genetic Variation
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage
Bo Xia
Itai Yanai
Publisher Correction 23 September 2022 Pages: 1695 - 1695

Volume 141, Issue 10

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