Cargando…

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

BACKGROUND: Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. METHODS: We applied a combination of systematic experimental and bioinformatic methods to i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Middelkamp, Sjors, Vlaar, Judith M., Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J., Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E., Kloosterman, Wigard P., Cuppen, Edwin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894143/ https://www.ncbi.nlm.nih.gov/pubmed/31801603 http://dx.doi.org/10.1186/s13073-019-0692-0

Ejemplares similares

Mapping and phasing of structural variation in patient genomes using nanopore sequencing
por: Cretu Stancu, Mircea, et al.
Publicado: (2017)

Publisher Correction: The mutational impact of culturing human pluripotent and adult stem cells
por: Kuijk, Ewart, et al.
Publicado: (2020)

The mutational impact of culturing human pluripotent and adult stem cells
por: Kuijk, Ewart, et al.
Publicado: (2020)

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
por: Kloosterman, Wigard P, et al.
Publicado: (2014)

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
por: Middelkamp, Sjors, et al.
Publicado: (2017)

5-Fluorouracil treatment induces characteristic T>G mutations in human cancer
por: Christensen, Sharon, et al.
Publicado: (2019)

The genome-wide mutational consequences of DNA hypomethylation
por: Besselink, Nicolle, et al.
Publicado: (2023)

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer
por: Jager, Myrthe, et al.
Publicado: (2019)

Early divergence of mutational processes in human fetal tissues
por: Kuijk, Ewart, et al.
Publicado: (2019)

Sperm DNA damage causes genomic instability in early embryonic development
por: Middelkamp, Sjors, et al.
Publicado: (2020)

A multi-platform reference for somatic structural variation detection
por: Espejo Valle-Inclan, Jose, et al.
Publicado: (2022)

GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing
por: Cameron, Daniel L., et al.
Publicado: (2021)

Recurrent exon-deleting activating mutations in AHR act as drivers of urinary tract cancer
por: Vlaar, Judith M., et al.
Publicado: (2022)

Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns
por: Bollen, Yannik, et al.
Publicado: (2021)

Precancerous liver diseases do not cause increased mutagenesis in liver stem cells
por: Nguyen, Luan, et al.
Publicado: (2021)

Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients
por: Valle-Inclan, Jose Espejo, et al.
Publicado: (2021)

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
por: Kloosterman, Wigard P, et al.
Publicado: (2011)

The Dynamics of Somatic Mutagenesis During Life in Humans
por: Manders, Freek, et al.
Publicado: (2021)

Cloning and expression of new microRNAs from zebrafish
por: Kloosterman, Wigard P., et al.
Publicado: (2006)

Characteristics of de novo structural changes in the human genome
por: Kloosterman, Wigard P., et al.
Publicado: (2015)

Genomic DNA Pooling Strategy for Next-Generation Sequencing-Based Rare Variant Discovery in Abdominal Aortic Aneurysm Regions of Interest—Challenges and Limitations
por: Harakalova, Magdalena, et al.
Publicado: (2011)

MutationalPatterns: comprehensive genome-wide analysis of mutational processes
por: Blokzijl, Francis, et al.
Publicado: (2018)

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy
por: Rang, Franka J., et al.
Publicado: (2018)

Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing
por: van Heesch, Sebastiaan, et al.
Publicado: (2013)

Genome-wide patterns and properties of de novo mutations in humans
por: Francioli, Laurent C., et al.
Publicado: (2015)

A framework for the detection of de novo mutations in family-based sequencing data
por: Francioli, Laurent C, et al.
Publicado: (2017)

VARPRISM: incorporating variant prioritization in tests of de novo mutation association
por: Hu, Hao, et al.
Publicado: (2016)

ASO Author Reflections: Distal Pancreatectomy with Celiac Axis Resection for Locally Advanced Pancreatic Cancer—Patient Selection and Surgical Experience are Key
por: Klompmaker, Sjors, et al.
Publicado: (2018)

Substrate requirements for let-7 function in the developing zebrafish embryo
por: Kloosterman, Wigard P., et al.
Publicado: (2016)

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells
por: Kneissig, Maja, et al.
Publicado: (2019)

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer
por: de Witte, Chris J., et al.
Publicado: (2022)

Genomic and transcriptomic plasticity in treatment-naïve ovarian cancer
por: Hoogstraat, Marlous, et al.
Publicado: (2014)

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing
por: Stangl, Christina, et al.
Publicado: (2020)

Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis
por: Osorio, Fernando G., et al.
Publicado: (2018)

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
por: Santoni, Federico A., et al.
Publicado: (2014)

MicroRNAs show a wide diversity of expression profiles in the developing and mature central nervous system
por: Kapsimali, Marika, et al.
Publicado: (2007)

Targeted Inhibition of miRNA Maturation with Morpholinos Reveals a Role for miR-375 in Pancreatic Islet Development
por: Kloosterman, Wigard P, et al.
Publicado: (2007)

sv-callers: a highly portable parallel workflow for structural variant detection in whole-genome sequence data
por: Kuzniar, Arnold, et al.
Publicado: (2020)

Mouse microRNA profiles determined with a new and sensitive cloning method
por: Takada, Shuji, et al.
Publicado: (2006)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
por: Lo-A-Njoe, Shirley, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_l058io1t77k2muc7vcsqq61f8m