The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Genomics O. The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions. American Journal Of Medical Genetics Part A 2012, 158A: 1523-1525. PMID: 22628075, PMCID: PMC3702263, DOI: 10.1002/ajmg.a.35470.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingMendelian GenomicsMendelian disordersHuman genetics communityNext-generation exome sequencingExome sequencingGenomicsMendelian phenotypesGenome sequencingGenetics communityRare Mendelian conditionsMendelian conditionsGenesSequencingNew powerful toolPowerful toolLarge fractionPhenotypeLarge-scale initiativesDiscoveryIdentification