Results 101 to 110 of about 475,380 (299)

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Nature Genetics, 2023
M. Babadi, Jack M. Fu, Samuel K. Lee, A. Smirnov, L. Gauthier, Mark A. Walker, David I. Benjamin, Xuefang Zhao, K. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis-Juan, H. Brand, E. Banks, M. Talkowski   +14 more
semanticscholar   +1 more source

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies

Prenatal Diagnosis, 2019
We evaluated the effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray (CMA) on the detection of copy number variants (CNVs) and uniparental disomy (UPD) in prenatal diagnosis.
Jia-Chi Wang, J. Radcliff, Sandra J Coe, Loretta W. Mahon   +3 more
semanticscholar   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

The contribution of copy number variants to psychiatric symptoms and cognitive ability

Molecular Psychiatry, 2023
J. Mollon, L. Almasy, S. Jacquemont, D. Glahn   +3 more
semanticscholar   +1 more source

Clinical interpretation of copy number variants in the human genome

Journal of Applied Genetics, 2017
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years.
B. Nowakowska
semanticscholar   +1 more source

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biological Psychiatry, 2018
BACKGROUND 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment.
S. Martin-Brevet, B. Rodríguez-Herreros, Jared A. Nielsen, C. Moreau, C. Modenato, A. Maillard, A. Pain, S. Richetin, A. Jønch, A. Qureshi, Nicole R. Zürcher, P. Conus, Ken Porche, W. Chung, E. Sherr, J. Spiro, Ferath Kherif, J. Beckmann, N. Hadjikhani, A. Reymond, R. Buckner, Bogdan Draganski, S. Jacquemont   +22 more
semanticscholar   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Chromosomal Microarray Testing and Epilepsy

Pediatric Neurology Briefs, 2014
Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or
J Gordon Millichap, John J Millichap
doaj   +1 more source

Polygenic risk scores in schizophrenia with clinically significant copy number variants

Psychiatry and Clinical Neurosciences, 2019
Recent studies have revealed that the interplay between polygenic risk scores (PRS) and large copy number variants (CNV; >500kb) is essential for the etiology of schizophrenia (SCZ). To replicate previous findings, including those for smaller CNV (>10kb),
Satoru Taniguchi, Kohei Ninomiya, I. Kushima, Takeo Saito, Ayu Shimasaki, T. Sakusabe, Y. Momozawa, M. Kubo, Y. Kamatani, N. Ozaki, M. Ikeda, N. Iwata   +11 more
semanticscholar   +1 more source