Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach-Reference-Cited by-同舟云学术

Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach

Published:2022-09-14 Issue:11 Volume:43 Page:1545-1556
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Holt Giles S.¹^ORCID,Batty Lois E.¹,Alobaidi Bilal K. S.¹,Smith Hannah E.¹,Oud Manon S.²^ORCID,Ramos Liliana³,Xavier Miguel J.¹^ORCID,Veltman Joris A.¹^ORCID

Affiliation:

1. Biosciences Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

2. Department of Human Genetics, Donders Institute for Brain Cognition and Behaviour, Radboudumc Nijmegen The Netherlands

3. Department of Obstetrics and Gynecology, Division of Reproductive Medicine Radboudumc Nijmegen The Netherlands

Funder

Wellcome Trust

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24450

Reference51 articles.

1. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

2. New insights into the generation and role of de novo mutations in health and disease

3. Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

4. The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility—A Unifying Hypothesis?

5. α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

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