Results 61 to 70 of about 10,451,845 (193)

Whole exome sequencing: a new era in prenatal diagnostics

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +1 more source

Detection of copy number variants in African goats using whole genome sequence data

BMC Genomics, 2021
Background Copy number variations (CNV) are a significant source of variation in the genome and are therefore essential to the understanding of genetic characterization.
Wilson Nandolo, Gábor Mészáros, Maria Wurzinger, Liveness J. Banda, Timothy N. Gondwe, Henry A. Mulindwa, Helen N. Nakimbugwe, Emily L. Clark, M. Jennifer Woodward-Greene, Mei Liu, the VarGoats Consortium, George E. Liu, Curtis P. Van Tassell, Benjamin D. Rosen, Johann Sölkner   +14 more
doaj   +1 more source

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Molecular Genetics & Genomic Medicine, 2019
Background Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease.
Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz   +9 more
doaj   +1 more source

The role of genomic Copy Number Variation (CNV) in osteoporosis [PDF]

, 2012
Copy number variation (CNV) is a relatively novel source of genetic variation, involving the duplication or deletion of segments of genomic DNA (gDNA) sequence, thereby changing the original number of DNA copies.
Connolly, Kate
core  

Enhancer chip: detecting human copy number variations in regulatory elements.

PLoS ONE, 2012
Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease.
Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro   +11 more
doaj   +1 more source

E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women

Molecular Medicine, 2021
Background Breast cancer is the most common neoplasia among women in developed countries. The risk factors of breast cancer can be distinguished in modifiable and unmodifiable factors and, among the latter, genetic factors play a key role.
Maria Santa Rocca, Clara Benna, Elena Goldin, Andrea Di Nisio, Luca De Toni, Ilaria Cosci, Alberto Marchet, Donato Nitti, Carlo Foresta   +8 more
doaj   +1 more source

Copy number variations in autistic children. [PDF]

Biomed Rep
Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood.
Alhazmi S, Alharthi M, Alzahrani M, Alrofaidi A, Basingab F, Almuhammadi A, Alkhatabi H, Ashi A, Chaudhary A, Elaimi A.   +9 more
europepmc   +3 more sources

Bayesian nonparametric hidden Markov models with application to the analysis of copy-number-variation in mammalian genomes [PDF]

, 2009
We consider the development of Bayesian Nonparametric methods for product partition models such as Hidden Markov Models and change point models.
Yau, C., Papaspiliopoulos, Omiros, Roberts, Gareth O., Holmes, Christopher   +3 more
core  

Copy Number Variation in Tourette Syndrome [PDF]

Neuron, 2017
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Anne S, Bassett, Stephen W, Scherer
openaire   +2 more sources

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Molecular Genetics & Genomic Medicine, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik   +7 more
doaj   +1 more source