Results 61 to 70 of about 2,746,413 (301)

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

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations [PDF]

, 2014
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly?-hydrocephalus(MPPH), have recently been defined on the basis of physical and neuroimaging features.
Cross, Nicholas C. P., Hidalgo-Curtis, Claire, Claire Hidalgo-Curtis (518402), Score, Joannah, Gibson, Jane, Sarah Ennis, Jane Gibson, I Karen Temple, Andrew Collins, Andrew Collins (63814), Nicola Foulds, Paula Aranaz (518400), Foulds, Nicola, Claire Hidalgo-Curtis, I. Karen Temple (518404), Sarah Ennis (435142), David O. Robinson (518403), Temple, I. Karen, William J Tapper, Paula Aranaz, Collins, Andrew, Joannah Score, Nicola Foulds (518399), Joannah Score (518401), Tapper, William J., Robinson, David O., William J. Tapper (518398), Ennis, Sarah, David O Robinson, Aranaz, Paula, Nicholas C P Cross, Jane Gibson (497328), Nicholas C. P. Cross (185184)   +32 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Whole exome sequencing coverage.

, 2015
Whole exome sequencing coverage.
Jeffery M. Klco (131579), Jacqueline L. Mudd (709845), Charles Lu (33589), Robert Fulton (252141), Michelle O'Laughlin (709846), Catrina Fronick (252126), Timothy J. Ley (131582), Daniel R. George (709844), Nichole M. Helton (709843), Richard K. Wilson (13401), Cheng Li (6339), Christopher A. Miller (231205)   +11 more
core   +1 more source

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

Frontiers in Genetics, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing, Yue Xing, Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, Clare A. Gill, Claudio Casola   +7 more
doaj   +1 more source