Results 101 to 110 of about 10,451,845 (193)

Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center

Taiwanese Journal of Obstetrics & Gynecology
Objective: The aim of this study was to investigate the value of genetic testing using exome sequencing (ES) in oligohydramnios pregnancies with or without other structural abnormalities.
Yan-Lin Li, Li Zhen, Xiao-Mei Lin, Jia-Chun Qin, Dong-Zhi Li   +4 more
doaj   +1 more source

Markov models for inferring Copy Number Variations from genotype data [PDF]

, 2008
We develop an algorithm to analyze data from Illumina genotyping arrays for the detection of copy number variations in a single individual or in a random sample of individuals.
Roel Opoff, Hui Wang, Sabatti, Chiara, Jan Veldink   +3 more
core  

Analysis of copy number variants detected by sequencing in spontaneous abortion

Molecular Cytogenetics
Background The incidence of spontaneous abortion (SA), which affects approximately 15–20% of pregnancies, is the most common complication of early pregnancy.
Anhui Liu, Liyuan Zhou, Yazhou Huang, Dan Peng   +3 more
doaj   +1 more source

Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]

, 2011
Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz, Matthew Meyerson, Scott L. Carter   +2 more
core  

FSHD: copy number variations on the theme of muscular dystrophy

, 2010
In humans, copy number variations (CNVs) are a common source of phenotypic diversity and disease susceptibility. Facioscapulohumeral muscular dystrophy (FSHD) is an important genetic disease caused by CNVs.
Daphne Selvaggia Cabianca, Davide Gabellini   +1 more
core   +1 more source

Copy number variations in endometrial cancer: from biological significance to clinical utility

The molecular basis of endometrial cancer, which is the most common malignancy of the female reproductive organs, relies not only on onset of mutations but also on copy number variations, the latter consisting of gene gains or losses.
Giulietti, Matteo, Ciavattini, Andrea, Dugo, Erica, Piva, Francesco, Giannella, Luca   +4 more
core   +1 more source

Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy

BMC Neurology
Background Diagnosis and monitoring of leptomeningeal malignancy remain challenging, and are usually based on neurological, radiological, cerebrospinal fluid (CSF) and pathological findings.
Le Zhang, Kechi Fang, Haitao Ren, Siyuan Fan, Jing Wang, Hongzhi Guan   +5 more
doaj   +1 more source

Copy Number Variation and Risk of Stroke [PDF]

Stroke, 2018
Grond-Ginsbach, Caspar, Erhart, Philipp, Chen, Bowang, Kloss, Manja, Engelter, Stefan T., Cole, John W.   +5 more
openaire   +4 more sources

On the optimization of copy number variations representation in pangenome graphs. [PDF]

Front Bioinform
Coggi M, Basile L, Branchini B, Amodeo G, Di Donato GW, Santambrogio MD.   +5 more
europepmc   +1 more source

Determination of copy number variations and affected gene networks in breast cancer. [PDF]

Biomed Rep
Larios-Serrato V, Valdez-Salazar HA, Torres J, Camorlinga-Ponce M, Piña-Sánchez P, Mayani H, Ruiz-Tachiquín ME.   +6 more
europepmc   +1 more source