Abstract: Methods are described for the detection of low frequency genetic variants, such as somatic mosaic variants. The methods comprise parallel amplification reactions of a target nucleic acid sequence to generate overlapping amplicons, pooled sequencing of the amplicons, and demultiplexed detection of low frequency variants.

Abstract: Provided are compositions and methods of identifying a single-nucleotide variant (sSNV) in a single cell which involve detecting a variant nucleotide on forward and reverse strands of genomic DNA, wherein the presence of the variant nucleotide on the forward and reverse strands identifies a double-stranded mutation that is a single-nucleotide variant.

Abstract: We provide a set of novel mutations in HIST3H3, AMT, GLDC and PEX7 genes which we have discovered as causative of some autism spectrum disorders and/or intellectual disability after analysis of families with more than one affected child and with consanguineous parents. Based on some of these mutations, we also provide novel treatment options for autism spectrum disorders and/or intellectual disability wherein the novel mutations have been diagnosed. The invention is based on the discovery that certain specific mutations, particularly when present in a homozygous, compound heterozygous, or trans heterozygous combinations, result in a phenotype of an autism spectrum disorder and/or intellectual disability. Some mutations also cause the disorder or disease as heterozygous mutation.

Abstract: We have performed a proteomic analysis of embryonic cerebrospinal fluid (e-CSF) in human and rats. Based on this discovery, the invention features methods and compositions for cell culture including components of e-CSF or fragments thereof. Also provided are methods for extraction of e-CSF.

Abstract: We have discovered that loss of Filamin A function results in weakened cell-cell junctions and vascular defects in genetically engineered mice. In addition, we have shown that patients with mutations in the gene coding for Filamin A exhibit high rates of cardiovascular disorders. On the basis of this discovery, the present invention features methods and kits for diagnosis of cell-cell junction related disorders (e.g.