Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation-Reference-Cited by-同舟云学术

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Published:2016-12-05 Issue:2 Volume:38 Page:180-192
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nilsson Daniel¹²³⁴,Pettersson Maria¹²,Gustavsson Peter¹²³,Förster Alisa¹²,Hofmeister Wolfgang¹²,Wincent Josephine¹²,Zachariadis Vasilios¹²,Anderlid Britt-Marie¹²³,Nordgren Ann¹²³,Mäkitie Outi¹²³⁵⁶,Wirta Valtteri⁷,Käller Max⁷,Vezzi Francesco⁸,Lupski James R⁹¹⁰,Nordenskjöld Magnus¹²³,Syk Lundberg Elisabeth¹²³,Carvalho Claudia M. B.⁹,Lindstrand Anna¹²³

Affiliation:

1. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm 171 76 Sweden

2. Center for Molecular Medicine; Karolinska Institutet; Stockholm 171 76 Sweden

3. Department of Clinical Genetics; Karolinska University Hospital; Stockholm 171 76 Sweden

4. Science for Life Laboratory; Karolinska Institutet Science Park; Solna 171 21 Sweden

5. Children's Hospital; Helsinki University Central Hospital and University of Helsinki; Helsinki 00290 Finland

6. Folkhälsan Institute of Genetics; Helsinki 00290 Finland

7. SciLifeLab; School of Biotechnology; KTH Royal Institute of Technology; Stockholm 171 71 Sweden

8. SciLifeLab; Department of Biochemistry and Biophysics; Stockholm University; Stockholm 171 21 Sweden

9. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas 77030

10. Texas Children's Hospital; Houston Texas 77030

Funder

Vetenskapsrådet

Svenska Sällskapet för Medicinsk Forskning

Marianne and Marcus Wallenberg Foundation

Stockholms Läns Landsting

Harald and Greta Jeanssons Foundation

Ulf Lundahl memory fund through the Swedish Brain Foundation

Nilsson Ehle donations

Erik Rönnberg Foundation

National Institutes of Health

Baylor Hopkins Center for Mendelian Genomics

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference64 articles.

1. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms;Abyzov;Nat Commun,2015

2. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing;Abyzov;Genome Res,2011

3. Tox: a multifunctional transcription factor and novel regulator of mammalian corticogenesis;Artegiani;EMBO J,2015

4. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort;Baptista;Am J Hum Genet,2008

5. Trimmomatic: a flexible trimmer for Illumina sequence data;Bolger;Bioinformatics,2014

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