Global variation in copy number in the human genome

…, TD Andrews, H Fiegler, MH Shapero, AR Carson… - nature, 2006 - nature.com
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Functional impact of global rare copy number variation in autism spectrum disorders

…, S Brennan, J Brian, SE Bryson, AR Carson… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

Structural variation in the human genome

L Feuk, AR Carson, SW Scherer - Nature Reviews Genetics, 2006 - nature.com
The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome-…

A genome-wide scan for common alleles affecting risk for autism

…, S Brennan, J Brian, AR Carson… - Human molecular …, 2010 - academic.oup.com
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants (CNVs). …

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD

…, J Rickaby, M Gazzellone, AR Carson… - Science translational …, 2011 - science.org
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition
characterized by developmentally atypical and impairing inattention, hyperactivity, and …

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

…, PJ Gianakopoulos, A Piton, AR Carson… - Science translational …, 2010 - science.org
Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is
one of the most highly heritable of the complex disorders, although the underlying genetic …

Human chromosome 7: DNA sequence and biology

…, LR Osborne, K Nakabayashi, JA Herbrick, AR Carson… - Science, 2003 - science.org
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly
158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a …

[HTML][HTML] Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

L Feuk, JR MacDonald, T Tang, AR Carson, M Li… - PLoS …, 2005 - journals.plos.org
With a draft genome-sequence assembly for the chimpanzee available, it is now possible to
perform genome-wide analyses to identify, at a submicroscopic level, structural …

Ultrasound-targeted microbubble destruction to deliver siRNA cancer therapy

AR Carson, CF McTiernan, L Lavery, M Grata, X Leng… - Cancer research, 2012 - AACR
Microbubble contrast agents can specifically deliver nucleic acids to target tissues when
exposed to ultrasound treatment parameters that mediate microbubble destruction. In this study, …

[HTML][HTML] Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

AR Carson, EN Smith, H Matsui, SK Brękkan… - BMC …, 2014 - Springer
Background Genotypes generated in next generation sequencing studies contain errors
which can significantly impact the power to detect signals in common and rare variant …