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Circular binary segmentation for the analysis of array-based DNA copy number data.
A modification ofbinary segmentation is developed, which is called circular binary segmentation, to translate noisy intensity measurements into regions of equal copy number in DNA sequence copy number.
PTEN, a Putative Protein Tyrosine Phosphatase Gene Mutated in Human Brain, Breast, and Prostate Cancer
Mapping of homozygous deletions on human chromosome 10q23 has led to the isolation of a candidate tumor suppressor gene, PTEN, that appears to be mutated at considerable frequency in human cancers.
The contribution of de novo coding mutations to autism spectrum disorder
It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation.
Large-Scale Copy Number Polymorphism in the Human Genome
It is shown that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans.
Strong Association of De Novo Copy Number Mutations with Autism
Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Tumour evolution inferred by single-cell sequencing
It is shown that with flow-sorted nuclei, whole genome amplification and next generation sequencing the authors can accurately quantify genomic copy number within an individual nucleus and indicate that tumours grow by punctuated clonal expansions with few persistent intermediates.
The lipid phosphatase activity of PTEN is critical for its tumor supressor function.
It is reported that a missense mutation in PTEN, PTEN-G129E, which is observed in two Cowden disease kindreds, specifically ablates the ability of PTEN to recognize inositol phospholipids as a substrate, suggesting that loss of the lipid phosphatase activity is responsible for the etiology of the disease.