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- W2043262717 abstract "For almost 15 years, genome research has focused on the search for major risk factors in common diseases, with disappointing results. Only recently, whole-genome association studies have begun to deliver because of the introduction of high-density single-nucleotide-polymorphism arrays and massive enlargement of cohort sizes, but most of the risk factors detected account for only a small proportion of the total genetic risk, and their diagnostic value is negligible. There is reason to believe that the complexity of many multifactorial disorders is primarily due to genetic heterogeneity, with defects of different genes causing the same disease. Moreover, de novo copy-number variation has been identified as a major cause of mental retardation and other complex disorders, suggesting that new mutations are an important, previously overlooked factor in the etiology of complex diseases. These observations support the notion that research into the previously neglected monogenic disorders should become a priority of genome research. Because of the introduction of novel high-throughput, low-cost sequencing methods, sequencing and genotyping will soon converge, with far-reaching implications for the elucidation of genetic disease and health care." @default.
- W2043262717 created "2016-06-24" @default.
- W2043262717 creator A5009225418 @default.
- W2043262717 date "2007-08-01" @default.
- W2043262717 modified "2023-10-10" @default.
- W2043262717 title "New Perspectives for the Elucidation of Genetic Disorders" @default.
- W2043262717 cites W1495912443 @default.
- W2043262717 cites W1499959019 @default.
- W2043262717 cites W1522239197 @default.
- W2043262717 cites W166650908 @default.
- W2043262717 cites W1963590211 @default.
- W2043262717 cites W1969797706 @default.
- W2043262717 cites W1971321176 @default.
- W2043262717 cites W1971737570 @default.
- W2043262717 cites W1972401591 @default.
- W2043262717 cites W1975059674 @default.
- W2043262717 cites W1976844911 @default.
- W2043262717 cites W1977209639 @default.
- W2043262717 cites W1977877753 @default.
- W2043262717 cites W1986826429 @default.
- W2043262717 cites W1991838121 @default.
- W2043262717 cites W1994394092 @default.
- W2043262717 cites W1995698221 @default.
- W2043262717 cites W1997150862 @default.
- W2043262717 cites W1998228863 @default.
- W2043262717 cites W2000364429 @default.
- W2043262717 cites W2000971189 @default.
- W2043262717 cites W2001475328 @default.
- W2043262717 cites W2002276824 @default.
- W2043262717 cites W2003970797 @default.
- W2043262717 cites W2007943561 @default.
- W2043262717 cites W2009084021 @default.
- W2043262717 cites W2010270082 @default.
- W2043262717 cites W2012648981 @default.
- W2043262717 cites W2014024536 @default.
- W2043262717 cites W2015849111 @default.
- W2043262717 cites W2019416330 @default.
- W2043262717 cites W2025843782 @default.
- W2043262717 cites W2028335133 @default.
- W2043262717 cites W2031032822 @default.
- W2043262717 cites W2033832765 @default.
- W2043262717 cites W2035380874 @default.
- W2043262717 cites W2036198235 @default.
- W2043262717 cites W2040159957 @default.
- W2043262717 cites W2042103448 @default.
- W2043262717 cites W2044110911 @default.
- W2043262717 cites W2044916117 @default.
- W2043262717 cites W2045921037 @default.
- W2043262717 cites W2047402726 @default.
- W2043262717 cites W2048653345 @default.
- W2043262717 cites W2048749333 @default.
- W2043262717 cites W2056485755 @default.
- W2043262717 cites W2058864686 @default.
- W2043262717 cites W2060015298 @default.
- W2043262717 cites W2063639355 @default.
- W2043262717 cites W2065218625 @default.
- W2043262717 cites W2065435420 @default.
- W2043262717 cites W2066224059 @default.
- W2043262717 cites W2068176013 @default.
- W2043262717 cites W2068804834 @default.
- W2043262717 cites W2069351794 @default.
- W2043262717 cites W2070412833 @default.
- W2043262717 cites W2071828654 @default.
- W2043262717 cites W2077063914 @default.
- W2043262717 cites W2078663610 @default.
- W2043262717 cites W2083022748 @default.
- W2043262717 cites W2088937623 @default.
- W2043262717 cites W2089107511 @default.
- W2043262717 cites W2092004661 @default.
- W2043262717 cites W2092710299 @default.
- W2043262717 cites W2097476332 @default.
- W2043262717 cites W2097660065 @default.
- W2043262717 cites W2099425626 @default.
- W2043262717 cites W2104261859 @default.
- W2043262717 cites W2105269157 @default.
- W2043262717 cites W2107233609 @default.
- W2043262717 cites W2109372707 @default.
- W2043262717 cites W2109555487 @default.
- W2043262717 cites W2110793364 @default.
- W2043262717 cites W2113784410 @default.
- W2043262717 cites W2114161752 @default.
- W2043262717 cites W2119152928 @default.
- W2043262717 cites W2119601553 @default.
- W2043262717 cites W2120128849 @default.
- W2043262717 cites W2122031852 @default.
- W2043262717 cites W2125815805 @default.
- W2043262717 cites W2127981150 @default.
- W2043262717 cites W2129559300 @default.
- W2043262717 cites W2131114792 @default.
- W2043262717 cites W2132082846 @default.
- W2043262717 cites W2134608020 @default.
- W2043262717 cites W2135772494 @default.
- W2043262717 cites W2137518425 @default.
- W2043262717 cites W2140455555 @default.
- W2043262717 cites W2141668516 @default.
- W2043262717 cites W2141838077 @default.
- W2043262717 cites W2142735201 @default.
- W2043262717 cites W2144459152 @default.