Results 41 to 50 of about 122,453 (313)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A cancer cell-line titration series for evaluating somatic classification. [PDF]

, 2015
BackgroundAccurate detection of somatic single nucleotide variants and small insertions and deletions from DNA sequencing experiments of tumour-normal pairs is a challenging task.
Beck, Timothy, Brown, Andrew MK, Denroche, Robert E, McPherson, John D, Mullen, Laura, Stein, Lincoln, Timms, Lee, Yung, Christina K   +7 more
core   +2 more sources

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Molecular Genetics & Genomic Medicine, 2021
Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS ...
Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury   +9 more
doaj   +1 more source

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng   +7 more
doaj   +1 more source

The challenge of consent in clinical genome-wide testing [PDF]

, 2016
Genome-wide testing methods include array comparative genomic hybridisation (aCGH), multiple gene panels, whole exome sequencing (WE) and whole genome sequencing (WGS).
Burke, Katherine, Clarke, Angus
core   +2 more sources

Skim exome capture genotyping in wheat

The Plant Genome, 2023
Next‐generation sequencing (NGS) technology advancements continue to reduce the cost of high‐throughput genome‐wide genotyping for breeding and genetics research.
Hongliang Wang, Amy Bernardo, Paul St. Amand, Guihua Bai, Robert L. Bowden, Mary J. Guttieri, Katherine W. Jordan   +6 more
doaj   +1 more source

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications [PDF]

, 2013
Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found
De Paepe, Anne, Vanakker, Olivier
core   +4 more sources

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait

Frontiers in Genetics, 2021
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti, Hussain Alsaleh, Muthukrishnan Eaaswarkhanth, Sumi Elsa John, Rasheeba Nizam, Motasem Melhem, Prashantha Hebbar, Prem Sharma, Fahd Al-Mulla, Thangavel Alphonse Thanaraj   +9 more
doaj   +1 more source

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization [PDF]

, 2017
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis. Results:
ANGLANI, FRANCA, BERTOLDI, LORIS, BIROLO, GIOVANNI, D'AVANZO, FRANCESCA, DE PASCALE, FABIO, Faulkner, Georgine, FELTRIN, ERIKA, FORCATO, CLAUDIO, NEGRISOLO, SUSANNA, SCHIAVON, RICCARDO, TOMANIN, ROSELLA, VALLE, GIORGIO, VEZZI, ALESSANDRO, VITULO, NICOLA, ZANETTI, ALESSANDRA   +14 more
core   +3 more sources