Results 41 to 50 of about 357,319 (349)

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

, 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

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 more
doaj   +1 more source

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Prenatal Diagnosis, 2020
The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.
Chantal Deden, K. Neveling, Dimitra Zafeiropopoulou, C. Gilissen, R. Pfundt, T. Rinne, N. de Leeuw, B. Faas, T. Gardeitchik, S. Sallevelt, A. Paulussen, S. Stevens, E. Sikkel, M. Elting, M. V. van Maarle, K. Diderich, N. Corsten‐Janssen, K. Lichtenbelt, G. Lachmeijer, L. Vissers, H. Yntema, M. Nelen, I. Feenstra, W. V. van Zelst-Stams   +23 more
semanticscholar   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

Whole-exome sequencing quality data. [PDF]

, 2018
Whole-exome sequencing quality data.
Jens Magnus Bernth Jensen (216015), Mette Christiansen (5215937), Anne-Mette Hvas (447765), Anette Tarp Hansen (5215934)   +3 more
core   +1 more source

Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing

Neoplasia: An International Journal for Oncology Research, 2011
The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan   +9 more
doaj   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Journal of the American Medical Association (JAMA), 2014
IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic ...
Yaping Yang, D. Muzny, F. Xia, Zhiyv Niu, R. Person, Yan Ding, P. Ward, Alicia A. Braxton, Min Wang, C. Buhay, N. Veeraraghavan, A. Hawes, T. Chiang, Magalie S Leduc, J. Beuten, Jing Zhang, Weimin He, J. Scull, A. Willis, M. Landsverk, W. Craigen, M. Bekheirnia, A. Stray-Pedersen, Pengfei Liu, Shu Wen, W. Alcaraz, H. Cui, M. Walkiewicz, J. Reid, M. Bainbridge, Ankita Patel, E. Boerwinkle, A. Beaudet, J. Lupski, S. Plon, R. Gibbs, C. Eng   +36 more
semanticscholar   +1 more source

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

bioRxiv, 2021
Background Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. The clinically relevant CNVs are hard to detect because CNVs are common structural variations that define large parts of the normal human ...
M. Gabrielaitė, Mathias H. Torp, M. S. Rasmussen, S. Andreu-Sánchez, F. G. Vieira, C. B. Pedersen, Savvas Kinalis, M. Madsen, C. Yde, Lars Rønn Olsen, R. Marvig, O. Østrup, M. Rossing, F. Nielsen, O. Winther, F. Bagger   +15 more
semanticscholar   +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 [PDF]

, 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