Results 61 to 70 of about 912,126 (302)

Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.

open access: yesPLoS ONE
BackgroundSingle nucleotide polymorphism (SNP) array has been applied to prenatal diagnosis. This study aimed to assess the clinical significance of SNP array in diagnosing fetal chromosomal anomalies based on our experience.MethodsA total of 8753 ...
Li Wen   +4 more
doaj   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

open access: yesAdvanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni   +17 more
wiley   +1 more source

Development and validation of a Pacific Abalone (Haliotis discus hannai) custom 60K SNP array

open access: yesAquaculture Reports
The Pacific abalone (Haliotis discus hannai) is a commercially important abalone species native to South Korea, which is immensely popular as a seafood delicacy.
Jeong Woen Shin   +9 more
doaj   +1 more source

Tumor Touch Imprints as Source for Whole Genome Analysis of Neuroblastoma Tumors. [PDF]

open access: yesPLoS ONE, 2016
INTRODUCTION:Tumor touch imprints (TTIs) are routinely used for the molecular diagnosis of neuroblastomas by interphase fluorescence in-situ hybridization (I-FISH).
Clemens Brunner   +7 more
doaj   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

open access: yesAdvanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song   +9 more
wiley   +1 more source

Suffix Arrays for Spaced-SNP Databases

open access: yesCoRR, 2014
Single-nucleotide polymorphisms (SNPs) account for most variations between human genomes. We show how, if the genomes in a database differ only by a reasonable number of SNPs and the substrings between those SNPs are unique, then we can store a fast compressed suffix array for that database.
openaire   +3 more sources

Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer

open access: yesBMC Genomics, 2007
Background Cervical carcinoma develops as a result of multiple genetic alterations. Different studies investigated genomic alterations in cervical cancer mainly by means of metaphase comparative genomic hybridization (mCGH) and microsatellite marker ...
Kenter Gemma G   +8 more
doaj   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

open access: yesAdvanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale   +23 more
wiley   +1 more source

Arrayed Primer Extension in the “Array of Arrays” Format: A Rational Approach for Microarray-Based SNP Genotyping [PDF]

open access: yesGenetic Testing, 2007
This study provides a new version of the arrayed primer extension (APEX) protocol adapted to the 'array of arrays' platform using an instrumental setup for microarray processing not previously described. The primary aim of the study is to implement a system for rational cost-efficient genotyping where multiple singlenucleotide polymorphisms (SNPs) and ...
Klito, N   +7 more
openaire   +3 more sources

Application of single nucleotide polymorphism array (SNP array) derived median copy number state for monitoring the clonal burden of the chromosomal aberrations in myelodysplastic neoplasms

open access: yesHematology
Objectives Our study integrates SNP array and metaphase cytogenetics (MC) to decode clonal architecture in myelodysplastic syndromes (MDS) and related disorders.Methods We retrospectively analyzed chromosomal aberrations in 33 patients diagnosed with MDS
Lili Song, Zhenxiu Guo, Kun Chi
doaj   +1 more source

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