Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts<scp><i>ZFPM2</i></scp>in familial congenital diaphragmatic hernia-Reference-Cited by-同舟云学术

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disruptsZFPM2in familial congenital diaphragmatic hernia

Published:2022-02-04 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Nicholas Thomas J.¹^ORCID,Al‐Sweel Najla²³,Farrell Andrew¹,Mao Rong²³,Bayrak‐Toydemir Pinar²³,Miller Christine E.²,Bentley Dawn⁴,Palmquist Rachel⁵⁶,Moore Barry¹,Hernandez Edgar J.¹,Cormier Michael J.¹,Fredrickson Eric²,Noble Katherine²,Rynearson Shawn¹,Holt Carson¹,Karren Mary Anne¹,Bonkowsky Joshua L.⁵⁶^ORCID,Tristani‐Firouzi Martin⁷,Yandell Mark¹,Marth Gabor¹,Quinlan Aaron R.¹⁸,Brunelli Luca⁴,Toydemir Reha M.²³^ORCID,Shayota Brian J.⁹,Carey John C.⁹^ORCID,Boyden Steven E.¹,Malone Jenkins Sabrina⁴^ORCID

Affiliation:

1. Department of Human Genetics, Utah Center for Genetic Discovery University of Utah Salt Lake City USA

2. ARUP Laboratories Salt Lake City USA

3. Department of Pathology University of Utah Salt Lake City USA

4. Division of Neonatology, Department of Pediatrics University of Utah School of Medicine Salt Lake City USA

5. Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine Salt Lake City USA

6. Primary Children's Center for Personalized Medicine Salt Lake City USA

7. Division of Pediatric Cardiology, Department of Pediatrics University of Utah School of Medicine Salt Lake City USA

8. Department of Biomedical Informatics University of Utah Salt Lake City USA

9. Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City USA

Funder

Ben B. and Iris M. Margolis Foundation

Illumina

ARUP Laboratories

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1888

Reference63 articles.

1. Mapping and characterization of structural variation in 17,795 human genomes

2. Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

3. Genome structural variation discovery and genotyping

4. Samplot: a platform for structural variant visual validation and automated filtering

5. Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

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