Matches in SemOpenAlex for { <https://semopenalex.org/work/W2585202325> ?p ?o ?g. }
- W2585202325 abstract "Abstract With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. We developed a general method to better interpret the likelihood that a rare variant is disease causing if observed in a given gene or genic region mapping to a described protein domain, using genome-wide information from a large control sample. We implemented these methods as a web tool and demonstrate application to 19 relevant but diverse next-gen sequencing studies. Additionally, we calculate the statistical significance of findings involving multi-family studies with rare Mendelian disease and studies of large-scale complex disorders such as autism spectrum disorder." @default.
- W2585202325 created "2017-02-10" @default.
- W2585202325 creator A5073896107 @default.
- W2585202325 creator A5078937959 @default.
- W2585202325 date "2017-01-25" @default.
- W2585202325 modified "2023-09-23" @default.
- W2585202325 title "Calculating the statistical significance of rare variants causal for Mendelian and complex disorders" @default.
- W2585202325 cites W1888270295 @default.
- W2585202325 cites W1934704664 @default.
- W2585202325 cites W1964426200 @default.
- W2585202325 cites W1964444099 @default.
- W2585202325 cites W1966955143 @default.
- W2585202325 cites W1970848271 @default.
- W2585202325 cites W1972241389 @default.
- W2585202325 cites W1975205104 @default.
- W2585202325 cites W1980740976 @default.
- W2585202325 cites W1983226769 @default.
- W2585202325 cites W1984046516 @default.
- W2585202325 cites W1984068087 @default.
- W2585202325 cites W1984313344 @default.
- W2585202325 cites W1984331840 @default.
- W2585202325 cites W1988670106 @default.
- W2585202325 cites W1994139728 @default.
- W2585202325 cites W1996391793 @default.
- W2585202325 cites W1999160620 @default.
- W2585202325 cites W1999204296 @default.
- W2585202325 cites W2000391750 @default.
- W2585202325 cites W2000766568 @default.
- W2585202325 cites W2001704867 @default.
- W2585202325 cites W2005057024 @default.
- W2585202325 cites W2005809131 @default.
- W2585202325 cites W2009705216 @default.
- W2585202325 cites W2024663595 @default.
- W2585202325 cites W2030222772 @default.
- W2585202325 cites W2036210716 @default.
- W2585202325 cites W2038248579 @default.
- W2585202325 cites W2038732878 @default.
- W2585202325 cites W2039783092 @default.
- W2585202325 cites W2040055047 @default.
- W2585202325 cites W2041854645 @default.
- W2585202325 cites W2055740052 @default.
- W2585202325 cites W2058536769 @default.
- W2585202325 cites W2059145105 @default.
- W2585202325 cites W2060427373 @default.
- W2585202325 cites W2061706174 @default.
- W2585202325 cites W2064200890 @default.
- W2585202325 cites W2065864330 @default.
- W2585202325 cites W2072577103 @default.
- W2585202325 cites W2072782260 @default.
- W2585202325 cites W2072887510 @default.
- W2585202325 cites W2072931688 @default.
- W2585202325 cites W2074085626 @default.
- W2585202325 cites W2074923758 @default.
- W2585202325 cites W2085198610 @default.
- W2585202325 cites W2088007420 @default.
- W2585202325 cites W2091564721 @default.
- W2585202325 cites W2092918092 @default.
- W2585202325 cites W2096019836 @default.
- W2585202325 cites W2096791516 @default.
- W2585202325 cites W2097020761 @default.
- W2585202325 cites W2100302607 @default.
- W2585202325 cites W2104570606 @default.
- W2585202325 cites W2108994842 @default.
- W2585202325 cites W2112604819 @default.
- W2585202325 cites W2115129909 @default.
- W2585202325 cites W2115494288 @default.
- W2585202325 cites W2118143563 @default.
- W2585202325 cites W2126539026 @default.
- W2585202325 cites W2127003470 @default.
- W2585202325 cites W2127550032 @default.
- W2585202325 cites W2131104106 @default.
- W2585202325 cites W2138014988 @default.
- W2585202325 cites W2139282632 @default.
- W2585202325 cites W2143943364 @default.
- W2585202325 cites W2148816655 @default.
- W2585202325 cites W2150761237 @default.
- W2585202325 cites W2155445544 @default.
- W2585202325 cites W2159027054 @default.
- W2585202325 cites W2160995259 @default.
- W2585202325 cites W2162475253 @default.
- W2585202325 cites W2164461702 @default.
- W2585202325 cites W2166481834 @default.
- W2585202325 cites W2167037478 @default.
- W2585202325 cites W2167361342 @default.
- W2585202325 cites W2174686320 @default.
- W2585202325 cites W2179856055 @default.
- W2585202325 cites W2256016639 @default.
- W2585202325 cites W2281372923 @default.
- W2585202325 cites W4230266413 @default.
- W2585202325 cites W4238589708 @default.
- W2585202325 doi "https://doi.org/10.1101/103218" @default.
- W2585202325 hasPublicationYear "2017" @default.
- W2585202325 type Work @default.
- W2585202325 sameAs 2585202325 @default.
- W2585202325 citedByCount "1" @default.
- W2585202325 countsByYear W25852023252020 @default.
- W2585202325 crossrefType "posted-content" @default.
- W2585202325 hasAuthorship W2585202325A5073896107 @default.
- W2585202325 hasAuthorship W2585202325A5078937959 @default.
- W2585202325 hasBestOaLocation W25852023251 @default.