Distinct sequence features underlie microdeletions and gross deletions in the human genome-Reference-Cited by-同舟云学术

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Distinct sequence features underlie microdeletions and gross deletions in the human genome

Published:2022-02 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Qi Mengling¹^ORCID,Stenson Peter D.²,Ball Edward V.²,Tainer John A.³,Bacolla Albino³^ORCID,Kehrer‐Sawatzki Hildegard⁴,Cooper David N.²,Zhao Huiying¹^ORCID

Affiliation:

1. Department of Medical Research Center Sun Yat‐sen Memorial Hospital, Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation Guangzhou China

2. Institute of Medical Genetics, School of Medicine Cardiff University Cardiff UK

3. Departments of Cancer Biology and of Molecular and Cellular Oncology University of Texas MD Anderson Cancer Center Houston Texas USA

4. Institute of Human Genetics University of Ulm Ulm Germany

Funder

National Natural Science Foundation of China

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24314

Reference109 articles.

1. Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A;Abelleyro M. M.;Human Mutation,2020

2. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination‐associated motifs;Abeysinghe S. S.;Human Mutation,2003

3. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms;Abyzov A.;Nature Communications,2015

4. Non‐random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements;Albano F.;Molecular Cancer,2010

5. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene;Ankala A.;Genome Research,2012

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. On the edge of deletion: Using natural and engineered microhomology to edit the human genome;Gene and Genome Editing;2024-06

2. A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report;BMC Medical Genomics;2024-03-25

3. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature;Clinica Chimica Acta;2024-01

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