id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_npxvevzt5rdwdkxyqgrzaxxsym	Nicholas Katsanis	The continuum of causality in human genetic disorders	2016	5	.pdf	application/pdf	4573	431	60	Human genetics typically separates rare and complex disorders into separate their frequencies in populations; and has argued, passionately, over the contributions of rare versus common alleles in the study of the genetics of human disease, not The contribution of mutational effects to other so-called "monogenic" diseases is of two autosomal-dominant disorders caused by mutations in TCF4 (which encodes transcription factor 4); in Following on from the concept of necessity and sufficiency, a third concept that needs to be revised is the traditional paradigm that alleles associated with a rare disease diseases are either exclusively common [30] or a collection of rare alleles [31] is an empirical oversimplification For example, age-related macular degeneration is a paragon of complex trait analysis and disease genetics when genome-wide association studies recessive mutations in BBS10 (which encodes BardetBiedl syndrome 10)—mutations in which cause the rare a more accurate understanding of human genetic diseases	./cache/work_npxvevzt5rdwdkxyqgrzaxxsym.pdf	./txt/work_npxvevzt5rdwdkxyqgrzaxxsym.txt