Copy Number Variants in Human Health and Disease - May 26, 2015

Genomics|Features|Copy Number Variants

Copy Number Variants

Copy Number Variants in Human Health and Disease - May 26, 2015

Copy number variations and cognitive phenotypes in unselected populations 
Mannik K et al, JAMA May 26, 2015

Cognitive phenotypes and genomic copy number variations
Lupski JR , JAMA May 26, 2015

Clinical implications of copy number variations in autoimmune disorders.
Yim Seon-Hee et al. Korean J. Intern. Med. 2015 May (3) 294-304

The variation game: Cracking complex genetic disorders with NGS and omics data.
Cui H et al. Methods 2015 Jun 1. 18-31

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair N et al. Mol Cytogenet 2015 26

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype - a systematic review and meta-analysis.
Grande M et al. Ultrasound Obstet Gynecol 2015 Apr 20.

Cerebral palsy - causes, pathways, and the role of genetic variants.
MacLennan AH et al. Am. J. Obstet. Gynecol. 2015 May 20.

The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos.
Fan J et al. Reprod. Biomed. Online 2015 Apr 9.

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
Naseer MI et al. BMC Genomics 2015 S10

Structural variation mutagenesis of the human genome: Impact on disease and evolution.
Lupski JR et al. Environ. Mol. Mutagen. 2015 Apr 17.

Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder MW et al. N. Engl. J. Med. 2015 Apr 23. (17) 1639-45

Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.
Vishweswaraiah S et al. Allergy Asthma Immunol Res 2015 May (3) 265-75

Copy number variations' effect on drug response still overlooked.
Willyard C et al. Nat. Med. 2015 Mar (3) 206

Rare structural genetic variation in human prion diseases.
Lukic A et al. Neurobiol. Aging 2015 May (5) 2004.e1-8

Estimating copy numbers of alleles from population-scale high-throughput sequencing data.
Mimori T et al. BMC Bioinformatics 2015 S4

Copy number variations in children with brain malformations and refractory epilepsy.
Wincent J et al. Am. J. Med. Genet. A 2015 Mar (3) 512-23

A copy number variation map of the human genome.
Zarrei M et al. Nat. Rev. Genet. 2015 Mar (3) 172-83