Wain HM, Lovering RC, Bruford EA, Lush MJ, Wright MW, Povey S: Guidelines for Human Gene Nomenclature. Genomics 2002, 79(4):464-470.Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S (2002a) Guidelines for human gene nomenclature. Genomics 79:464-470...
[1], when the Human Gene Nomenclature Committee was first given the authority to approve and implement human gene names and symbols. Updates of these guidelines were published in 1987 [2], 1995 [3], and 1997 [4]. With the recent publications of the complete human genome sequence there is...
[Guidelines for human gene nomenclature]. As given the abundance of information on the human genome which as accumulated over the two past decades, the necessity of harmonizing the rules of nomencl... F Wojcik - 《Ann Biol Clin》 被引量: 623发表: 2002年 ...
174 The Human Gene Mutation Database: http://www.hgmd.cf.ac.uk/ac/index.php. 175 OECD Guidelines for Quality Assurance in Molecular Genetic Testing. http://www. oecd.org/science/biotech/38839788.pdf. 176 Mutalyser: https:/mutalyser.nl. This work is licensed under a Creative Commons ...
The results should be given using the most recent International System for Human Cytogenomic Nomenclature (ISCN) [9], where practicable. Human Genome Variation Society (HGVS) nomenclature (http://www.HGVS.org/varnomen) should be used when applicable. HUGO Gene Nomenclature Committee (HGNC) gene ...
LOVD v.2.0: the next generation in gene variant databases Hum Mutat, 32 (2011), pp. 557-563 CrossrefView in ScopusGoogle Scholar 31 X. Liu, C. Wu, C. Li, E. Boerwinkle dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site...
Guidelines for human gene nomenclature: https://www.genenames.org Guidelines for nomenclature of genes, genetic markers, alleles, and mutations in mouse and rat: https://www.informatics.jax.org Genetic nomenclature for Drosophila melanogaster: https://flybase.org Genetic nomenclature for Caenorha...
Human genotype–phenotype association studies Until recently almost all genotype–phenotype observations were done using candidate gene approaches. The sequencing of the human genome and the comprehensive mapping of haplotypes of human SNPs have revolutionized gene association studies, which can now be condu...
Deciphering which, if any, of the observed variants are causative of monogenic disease is challenging as each human genome has 5 million variants (compared to the reference human genome sequence). The new release of gnomAD v4.0 (http://gnomad.broadinstitute.org/) includes SNV data from 807,...
It has to be kept in mind that non-paternity is a caveat/limitation for test result interpretation and indication for PND. Thus, if possible, parallel testing of parental samples is recommended. 21-OH genotyping Nomenclature and gene The nomenclature of the gene, its localization, transcript and...