scholarly journals Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism

PLoS ONE ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. e0187699 ◽  
Author(s):  
Marisa L. R. Cunha ◽  
Joost C. M. Meijers ◽  
Frits R. Rosendaal ◽  
Astrid van Hylckama Vlieg ◽  
Pieter H. Reitsma ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Whole Exome

scholarly journals Whole-exome sequencing identified genetic risk factors for asparaginase-related complications in childhood ALL patients

Oncotarget ◽  
2017 ◽  
Vol 8 (27) ◽  
pp. 43752-43767 ◽  
Author(s):  
Rachid Abaji ◽  
Vincent Gagné ◽  
Chang Jiang Xu ◽  
Jean-François Spinella ◽  
Francesco Ceppi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Childhood All ◽  
Whole Exome

scholarly journals Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Thomas Husson ◽  
◽  
Jean-Baptiste Duboc ◽  
Olivier Quenez ◽  
Camille Charbonnier ◽  
...  
Keyword(s):  
Risk Factors ◽  
Bipolar Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-Organ Failure in Acute Pancreatitis

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Fons F. van den Berg ◽  
Yama Issa ◽  
Jeroen P. Vreijling ◽  
Markus M. Lerch ◽  
Frank Ulrich Weiss ◽  
...  
Keyword(s):  
Risk Factors ◽  
Acute Pancreatitis ◽  
Multiple Organ Failure ◽  
Organ Failure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Multiple Organ ◽  
Whole Exome

scholarly journals Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

2019 ◽  
Author(s):  
Pamela Feliciano ◽  
Xueya Zhou ◽  
Irina Astrovskaya ◽  
Tychele N. Turner ◽  
Tianyun Wang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Exome Sequencing ◽  
Genetic Risk ◽  
De Novo ◽  
Meta Analysis ◽  
Genetic Risk Factors ◽  
Autism Spectrum ◽  
Whole Exome ◽  
Statistical Support ◽  
Complete Set

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DNA from saliva. We identified variants in genes and loci that are clinically recognized causes or significant contributors to ASD in 10.4% of families without previous genetic findings. Additionally, we identified variants that are possibly associated with autism in an additional 3.4% of families. A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.2 provides statistical support for 34 ASD risk genes with at least one damaging variant identified in SPARK. Nine of these genes (BRSK2, DPP6, EGR3, FEZF2, ITSN1, KDM1B, NR4A2, PAX5 and RALGAPB) are newly emerging genes in autism, of which BRSK2 has the strongest statistical support as a risk gene for autism (TADA q-value = 0.0015). Future studies leveraging the thousands of individuals with ASD that have enrolled in SPARK are likely to further clarify the genetic risk factors associated with ASD as well as allow accelerate autism research that incorporates genetic etiology.

scholarly journals Genetic risk factors for venous thromboembolism

2020 ◽  
Vol 13 (9) ◽  
pp. 971-981
Author(s):  
Bengt Zöller ◽  
Peter J. Svensson ◽  
Björn Dahlbäck ◽  
Christina Lind-Hallden ◽  
Christer Hallden ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Genetic Risk ◽  
Genetic Risk Factors

scholarly journals Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

2020 ◽  
Vol 19 ◽  
pp. 153303382091108
Author(s):  
Lubomir Balabanski ◽  
Dimitar Serbezov ◽  
Dragomira Nikolova ◽  
Olga Antonova ◽  
Desislava Nesheva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Tumor Suppressor ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Relevance ◽  
Tumor Suppressor Genes ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data

Objectives: The aim of the present study was to evaluate the clinical relevance of mutations in tumor suppressor genes using whole-exome sequencing data from centenarians and young healthy individuals. Methods: Two pools, one of centenarians and one of young individuals, were constructed and whole-exome sequencing was performed. We examined the whole-exome sequencing data of Bulgarian individuals for carriership of tumor suppressor gene variants. Results: Of all variants annotated in both pools, 5080 (0.06%) are variants in tumor suppressor genes but only 46 show significant difference in allele frequencies between the two studied groups. Four variants (0.004%) are pathogenic/risk factors according to single nucleotide polymorphism database: rs1566734 in PTPRJ, rs861539 in XRCC3, rs203462 in AKAP10, and rs486907 in RNASEL. Discussion: Based on their high minor allele frequencies and presence in the centenarian group, we could reclassify them from pathogenic/risk factors to benign. Our study shows that centenarian exomes can be used for re-evaluating the clinically uncertain variants.

Sign in / Sign up

Export Citation Format

Share Document