Tag: aCGH

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

To date, there have been reports of three balanced translocations and one microdeletion involving 12q24 associated with hypogonadism or KS1,2,3,4. In a case reported in 1983, all three brothers of Vietnamese Chinese origin were found to have severe primary hypogonadism with a karyotype of 46,XY,t(1;12)(p32;q24)3. Another case, published in 1990,…

Continue Reading A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Bioconductor – Vega

    This package is for version 2.11 of Bioconductor; for the stable, up-to-date release version, see Vega. An R package for copy number data segmentation Bioconductor version: 2.11 Vega (Variational Estimator for Genomic Aberrations) is an algorithm that adapts a very popular variational model (Mumford and Shah) used in…

Continue Reading Bioconductor – Vega

Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

In a recent study published in The New England Journal of Medicine, researchers performed a large-scale sequencing study using data gathered over a decade from a previous study, the Deciphering Developmental Disorders (DDD) study. This was undertaken to describe analytic strategies developed in the DDD study to identify and classify…

Continue Reading Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

What Is Array Comparative Genomic Hybridization?

Introduction Most genetic disorders are caused by unbalanced chromosomal abnormalities, which result in net gain or loss of genetic material. Cytologists have traditionally detected such abnormalities by creating a karyotype of a person’s chromosomes and analyzing the banding patterns contained within. However, researchers have increasingly relied on newer cytogenetic techniques…

Continue Reading What Is Array Comparative Genomic Hybridization?

PARK2 duplication or microdeletion and neurological diseases

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson’s. The Parkinson’s disease 2 (PARK2) gene encodes a protein with ubiquitin-E3-ligase activity, which has been identified as a p53 transcriptional repressor. The primary function of the…

Continue Reading PARK2 duplication or microdeletion and neurological diseases

Characterization of iPSCs derived from low grade gliomas revealed early regional chromosomal amplifications during gliomagenesis

Introduction: IDH1 mutation has been identified as an early genetic event driving low grade gliomas (LGGs) and it has been proven to exerts a powerful epigenetic effect. Cells containing IDH1 mutation are refractory to epigenetical reprogramming to iPSC induced by expression of Yamanaka transcription factors, a feature that we employed…

Continue Reading Characterization of iPSCs derived from low grade gliomas revealed early regional chromosomal amplifications during gliomagenesis

Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach

Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach Atıf İçin Kopyala Yildiz O., SILAN F., Karakaya T., Özdemir Ö. Turkish Journal of Medical Sciences, cilt.52, sa.5, ss.1689-1696, 2022 (SCI-Expanded) …

Continue Reading Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach

Synthetic Biology Market Set for Rapid Growth 2031

Synthetic Biology Market Outlook 2031 The global synthetic biology market was valued at US$ 10.7 Bn in 2021 The global market is projected to advance at a CAGR of 21.3% from 2022 to 2031 The global synthetic biology market is anticipated to reach more than US$ 74.7 Bn by the end of 2031 Synthetic Biology Market Introduction Synthetic biology is a branch of science…

Continue Reading Synthetic Biology Market Set for Rapid Growth 2031

aCGH – Allie: Result by abbreviation

1  array comparative genomic hybridization(1473 times) Neoplasms(306 times) FISH (238 times)CNVs (135 times)MLPA (72 times) 2003 1-Mb resolution array-based comparative genomic hybridization using a BAC clone set optimized for cancer gene analysis. 2  array CGH(43 times) Neoplasms(12 times) CNVs (7 times)FISH (3 times)ID (3 times) 2003 Combined array comparative genomic hybridization and…

Continue Reading aCGH – Allie: Result by abbreviation

Comparison of CNV analysis methods: Array CGH vs NGS

Rare genetic disorders are caused by variants in major functional genes. Most are SNV or INDEL variants, but SVs, such as CNVs or chromosomal variants, can also be the cause. Recently, a large-scale study has also been published showing that CNVs were identified in 11-12% more infants and children with…

Continue Reading Comparison of CNV analysis methods: Array CGH vs NGS

What is SNP array testing?

What is SNP array testing? The SNP array test looks for changes in specific areas of a person’s chromosomes, such as gains (duplications) or losses (deletions). These gains or losses result in extra or missing copies of genetic material. How does SNP array work? SNP array is a type of…

Continue Reading What is SNP array testing?

Cytogenomic Molecular Inversion Probe Array FFPE Tissue – Products of Conception

Cytogenetic Test Request Form Recommended (ARUP form #43098) Ordering Recommendation Recommendations when to order or not order the test. May include related or preferred tests. Use to detect copy number alterations and loss of heterozygosity in FFPE specimens from products of conception. Mnemonic Unique test identifier. CMAPFFPE Methodology Process(es) used…

Continue Reading Cytogenomic Molecular Inversion Probe Array FFPE Tissue – Products of Conception

Proven Recruiting hiring Bioinformatics Scientist in San Diego, California, United States

If culture and mentorship are your priorities – you’ve found your match. This pioneer company in Biotech is looking to support and promote a talented Bioinformatics Scientist who will assist in advancing the promise of genomics using data mining and integration of data. The ideal professional will have a strong…

Continue Reading Proven Recruiting hiring Bioinformatics Scientist in San Diego, California, United States

Bioconductor – aCGH

    This package is for version 2.9 of Bioconductor; for the stable, up-to-date release version, see aCGH. Classes and functions for Array Comparative Genomic Hybridization data. Bioconductor version: 2.9 Functions for reading aCGH data from image analysis output files and clone information files, creation of aCGH S3 objects for…

Continue Reading Bioconductor – aCGH