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• W2046572191 abstract "Recent advances in genomic technology and the availability of a finished human genome sequence havegreatly facilitated the identification of genes underlyinghuman Mendelian disorders. The contemporary challenge lies in the elucidation of complex disorders. Classically, the transmission of a Mendelian disorder is explained by the exact co-segregation of a single mutationwith the phenotype. Such mutations are absent in controlsand, most frequently, involve conserved coding sequences. These observations are in stark contrast to thecomplex non-Mendelian diseases, wherein mutations atsingle genes do occur in unaffecteds, and variants withweak or moderate quantitative effects on the phenotypeplay a significant role. Consequently, such mutationsmay exist at relatively high frequency in the generalpopulation..." @default.
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• W2046572191 date "2003-01-01" @default.
• W2046572191 modified "2023-10-16" @default.
• W2046572191 title "Genomic Variation in Multigenic Traits: Hirschsprung Disease" @default.
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• W2046572191 doi "https://doi.org/10.1101/sqb.2003.68.373" @default.
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