FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2168440186> ?p ?o ?g. }

• W2168440186 endingPage "278" @default.
• W2168440186 startingPage "256" @default.
• W2168440186 abstract "Recent advances in genome sequencing technologies provide unprecedented opportunities to characterize individual genomic landscapes and identify mutations relevant for diagnosis and therapy. Specifically, whole-exome sequencing using next-generation sequencing (NGS) technologies is gaining popularity in the human genetics community due to the moderate costs, manageable data amounts and straightforward interpretation of analysis results. While whole-exome and, in the near future, whole-genome sequencing are becoming commodities, data analysis still poses significant challenges and led to the development of a plethora of tools supporting specific parts of the analysis workflow or providing a complete solution. Here, we surveyed 205 tools for whole-genome/whole-exome sequencing data analysis supporting five distinct analytical steps: quality assessment, alignment, variant identification, variant annotation and visualization. We report an overview of the functionality, features and specific requirements of the individual tools. We then selected 32 programs for variant identification, variant annotation and visualization, which were subjected to hands-on evaluation using four data sets: one set of exome data from two patients with a rare disease for testing identification of germline mutations, two cancer data sets for testing variant callers for somatic mutations, copy number variations and structural variations, and one semi-synthetic data set for testing identification of copy number variations. Our comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers." @default.
• W2168440186 created "2016-06-24" @default.
• W2168440186 creator A5002129125 @default.
• W2168440186 creator A5020919941 @default.
• W2168440186 creator A5046940541 @default.
• W2168440186 creator A5061825891 @default.
• W2168440186 creator A5062402346 @default.
• W2168440186 creator A5064618007 @default.
• W2168440186 creator A5067775422 @default.
• W2168440186 creator A5077336528 @default.
• W2168440186 creator A5084751312 @default.
• W2168440186 creator A5089456984 @default.
• W2168440186 date "2013-01-21" @default.
• W2168440186 modified "2023-10-12" @default.
• W2168440186 title "A survey of tools for variant analysis of next-generation genome sequencing data" @default.
• W2168440186 cites W1559546378 @default.
• W2168440186 cites W1965691313 @default.
• W2168440186 cites W1970110423 @default.
• W2168440186 cites W1973878786 @default.
• W2168440186 cites W1974860827 @default.
• W2168440186 cites W1980070637 @default.
• W2168440186 cites W1980740976 @default.
• W2168440186 cites W1982236424 @default.
• W2168440186 cites W1984068087 @default.
• W2168440186 cites W1985532482 @default.
• W2168440186 cites W1985849948 @default.
• W2168440186 cites W1987507232 @default.
• W2168440186 cites W1988929438 @default.
• W2168440186 cites W1989298969 @default.
• W2168440186 cites W1990095531 @default.
• W2168440186 cites W1993493802 @default.
• W2168440186 cites W1993711225 @default.
• W2168440186 cites W1999402049 @default.
• W2168440186 cites W2000448320 @default.
• W2168440186 cites W2000894445 @default.
• W2168440186 cites W2001188663 @default.
• W2168440186 cites W2005467167 @default.
• W2168440186 cites W2007807048 @default.
• W2168440186 cites W2007955153 @default.
• W2168440186 cites W2012016911 @default.
• W2168440186 cites W2017474677 @default.
• W2168440186 cites W2020040634 @default.
• W2168440186 cites W2023116290 @default.
• W2168440186 cites W2023353541 @default.
• W2168440186 cites W2029641872 @default.
• W2168440186 cites W2030661635 @default.
• W2168440186 cites W2031396131 @default.
• W2168440186 cites W2034253224 @default.
• W2168440186 cites W2035831644 @default.
• W2168440186 cites W2036210716 @default.
• W2168440186 cites W2037476500 @default.
• W2168440186 cites W2038397847 @default.
• W2168440186 cites W2038473742 @default.
• W2168440186 cites W2039785774 @default.
• W2168440186 cites W2041205258 @default.
• W2168440186 cites W2044573154 @default.
• W2168440186 cites W2046601740 @default.
• W2168440186 cites W2048868499 @default.
• W2168440186 cites W2049267251 @default.
• W2168440186 cites W2054185647 @default.
• W2168440186 cites W2059145105 @default.
• W2168440186 cites W2061596350 @default.
• W2168440186 cites W2065817684 @default.
• W2168440186 cites W2068306453 @default.
• W2168440186 cites W2069529061 @default.
• W2168440186 cites W2069577154 @default.
• W2168440186 cites W2076357933 @default.
• W2168440186 cites W2077054461 @default.
• W2168440186 cites W2081763928 @default.
• W2168440186 cites W2085971602 @default.
• W2168440186 cites W2086840280 @default.
• W2168440186 cites W2093931624 @default.
• W2168440186 cites W2095763520 @default.
• W2168440186 cites W2096317658 @default.
• W2168440186 cites W2096403311 @default.
• W2168440186 cites W2096441981 @default.
• W2168440186 cites W2097205777 @default.
• W2168440186 cites W2097341408 @default.
• W2168440186 cites W2097821349 @default.
• W2168440186 cites W2097988074 @default.
• W2168440186 cites W2101289352 @default.
• W2168440186 cites W2103258359 @default.
• W2168440186 cites W2103441770 @default.
• W2168440186 cites W2103903744 @default.
• W2168440186 cites W2103931879 @default.
• W2168440186 cites W2104570606 @default.
• W2168440186 cites W2105479306 @default.
• W2168440186 cites W2106242560 @default.
• W2168440186 cites W2106924416 @default.
• W2168440186 cites W2107493728 @default.
• W2168440186 cites W2107830007 @default.
• W2168440186 cites W2108234281 @default.
• W2168440186 cites W2108706633 @default.
• W2168440186 cites W2112113834 @default.
• W2168440186 cites W2113745578 @default.
• W2168440186 cites W2115494288 @default.
• W2168440186 cites W2116126626 @default.
• W2168440186 cites W2117131162 @default.

• next