Results 41 to 50 of about 124,431 (304)

Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He, Mei Meng, Xianchao Zhou, Rui Gao, Hui Wang   +4 more
doaj   +1 more source

Chromosome 13 Whole Exome Sequencing Results.

, 2021
Chromosome 13 results are displayed from whole exome sequencing of Card19lxcn mice. (DOCX)
Leonel Joannas (11565506), Opher S. Kornfeld (11565494), Elise Krespan (11565500), Benjamin Demarco (11565485), Elisabet Bjanes (11565479), Bettina L. Lee (7388093), Reyna Garcia Sillas (11565482), Dorothy Tovar (11565503), Alexandra A. DeLaney (11565491), Petr Broz (383934), Eric M. Rodríguez López (11565497), Rina Matsuda (5495699), Kaiwen W. Chen (11565509), Meghan A. Wynosky-Dolfi (3217632), Timothée Fettrelet (11565488), Daniel Grubaugh (5927699), Daniel P. Beiting (7329887), Jorge Henao-Mejia (3217623), Naomi H. Philip (3217647), Brian C. Schaefer (10834574), Igor E. Brodsky (11565512)   +20 more
core   +1 more source

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

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

The promise of whole-exome sequencing in medical genetics [PDF]

Journal of Human Genetics, 2013
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future.
Rabbani, B., Tekin, M., Mahdieh, N.
openaire   +2 more sources

Whole exome sequencing identifies centrosomal component gene mutations that increase human aneuploid conception risk, supplemental data

, 2019
This VCF file contains 162,365 SNVs identified across 160 individuals by whole exome sequencing that were used in the study. Allele counts (AC), total allele number (AN), and allele frequencies (AF) for either Low Aneuploidy Rate group (LRG) or High ...

core   +1 more source

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

Genotype and Phenotype Correlation in Patients with Comorbid Epilepsy and Intellectual Disability

Graduate Medical Education Research Journal, 2019
Mentor: Jill Clayton-Smith Program: Neurology Epilepsy and intellectual disability comorbidity is a common condition with great medical and psychological impact on a patient’s life and their family members.
Mohamed Taha, Jill Clayton-Smith
doaj   +1 more source

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia

Frontiers in Genetics, 2022
Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study ...
Hongguo Zhang, Wei Li, Yuting Jiang, Jia Li, Mucheng Chen, Ruixue Wang, Jing Zhao, Zhiyu Peng, Hui Huang, Ruizhi Liu   +9 more
doaj   +1 more source

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background

, 2022
Whole-exome sequencing single nucleotide variant annotation ...
Mardiaty Iryani Abdullah (14249240), Zing Hong Eng (14234888), Azlina Abdul Aziz (14249233), Khoon Leong Ng (14249234), Nurullainy Mat Rashid (14249241), Nurul Hannis Arba’ie (14249237), Sarni Mat junit (768536)   +6 more
core   +1 more source