Resources
There are a number of online resources that can offer a wealth of information about the human genome.
The ensembl and UCSC genome browsers zoom and scroll over chromosomes. They contain a huge amount of information on the human genome from many different database resources. Genes, motifs, sequence homologies to other species, repeats and disease associations are viewed alongside the genome sequence and are fully searchable.
The objective of the Database of Genomic Variants (DGV) is to provide a comprehensive summary of structural variation in the human genome to be used as a catalogue of control data aiming to correlate genomic imbalance with phenotype.
The International Standards for Cytogenomic Arrays (ISCA) Consortium is commited to improving cytogenomic array testing through data sharing and collaboration. Their database contains whole genome array data from individuals with phenotypes including intellectual disability, autism, and developmental delay.
The DECIPHER database of submicroscopic chromosomal imbalance collects clinical information about chromosomal microdeletions/duplications/insertions, translocations and inversions and displays this information on the human genome map.
The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a database devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases.
PubMed is an invaluable resource that comprises more than 20 million citations for biomedical literature from MEDLINE, life science journals, and online books.
OMIM, Online Mendelian Inheritance in Man, is a database of human genes and genetic disorders.
SUSPECTS aims to automate the first steps in identification of a candidate gene in a particular region of the genome, it incorporates a program called PROSPECTR that uses sequence features to rank genes in order of their likelihood of involvement in disease.
There are a number of publications that relate to arrayCGH, a few key papers relating to the original developments are listed below:
High resolution analysis of DNA copy number variation using comparative genomic hybridization to
microarrays. Pinkel et al. Nat Genet. 1998 Oct;20(2):207-11.
Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Solinas-Toldo et al. Genes Chromosomes Cancer. 1997 Dec;20(4):399-407.
Comparative genomic hybridization for molecular cytogenetic analysis of solid
tumors. Kallioniemi et al. Science. 1992 Oct 30;258(5083):818-21.
In July 2011 the ACMG published two articles regarding guidelines to using arrayCGH to investigate constitutional abnormalities in the post natal setting.
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Kearney HM, Thorland EC, Brown KK, et al.
Genet Med. 2011 Jul;13(7):680-5.
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Kearney HM, South ST, Wolff DJ, et al. Genet Med. 2011 Jul;13(7):676-9.