… is the use of SNP allele-specific probes to increase CNV sensitivity, distinguish alleles
and identify regions of uniparental disomy through the calculation of a metric termed B allele …

… For example, investigations involving alkyl cobaloximes [32] or rhodoximes [33], [34]
have yielded insights which are relevant to the behaviour of the vitamin B 12 coenzyme (5′-…

There is increasing experimental and epidemiological evidence that fetal programming of
genetic systems is a contributing factor in the recent increase in adult obesity and other …

It is well established that autism spectrum disorders (ASD) have a strong genetic component;
however, for at least 70% of cases, the underlying genetic cause is unknown 1 . Under the …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

… (b) We also performed a similar analysis on subphenotypes; in this analysis, we included
all Signature CNVs in conjunction with downsampled control CNVs, as we are highlighting …

… (A and B) (A) Gene isoforms 1 and 2 and (B) protein models of CHD8 with proband putative
disruptive mutations indicated. The location of the gene expression array probe used for …

… (b) Chromosome view of 18q showing BCL2 amplification … (b) Amplified view of deletion
breakpoint at 3p21.1 between … (c) FISH confirmation of breakpoint in b showing single-copy …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

… Exome sequencing reads from FASTQ files were divided into nonoverlapping 36-bp
constituents (A) and aligned to targeted regions (B), allowing for up to two mismatches per 36-bp …