Matches in SemOpenAlex for { <https://semopenalex.org/work/W3093528466> ?p ?o ?g. }
- W3093528466 abstract "Abstract Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all downstream analysis and interpretation processes rely. Just as NGS technologies have evolved considerably over the past 10 years, so too have the software tools and approaches for detecting sequence variants in clinical samples. In this review, I discuss the current best practices for variant calling in clinical sequencing studies, with a particular emphasis on trio sequencing for inherited disorders and somatic mutation detection in cancer patients. I describe the relative strengths and weaknesses of panel, exome, and whole-genome sequencing for variant detection. Recommended tools and strategies for calling variants of different classes are also provided, along with guidance on variant review, validation, and benchmarking to ensure optimal performance. Although NGS technologies are continually evolving, and new capabilities (such as long-read single-molecule sequencing) are emerging, the “best practice” principles in this review should be relevant to clinical variant calling in the long term." @default.
- W3093528466 created "2020-10-29" @default.
- W3093528466 creator A5022808238 @default.
- W3093528466 date "2020-10-26" @default.
- W3093528466 modified "2023-10-17" @default.
- W3093528466 title "Best practices for variant calling in clinical sequencing" @default.
- W3093528466 cites W1255676896 @default.
- W3093528466 cites W1496613889 @default.
- W3093528466 cites W1590169480 @default.
- W3093528466 cites W1907868928 @default.
- W3093528466 cites W1919257374 @default.
- W3093528466 cites W1959574505 @default.
- W3093528466 cites W1965919119 @default.
- W3093528466 cites W1979229593 @default.
- W3093528466 cites W1980099549 @default.
- W3093528466 cites W1982236424 @default.
- W3093528466 cites W1986643547 @default.
- W3093528466 cites W2002843742 @default.
- W3093528466 cites W2003438077 @default.
- W3093528466 cites W2005009098 @default.
- W3093528466 cites W2008878109 @default.
- W3093528466 cites W2015823489 @default.
- W3093528466 cites W2021341670 @default.
- W3093528466 cites W2025884426 @default.
- W3093528466 cites W2026145190 @default.
- W3093528466 cites W2026566803 @default.
- W3093528466 cites W2033173420 @default.
- W3093528466 cites W2041440766 @default.
- W3093528466 cites W2044060805 @default.
- W3093528466 cites W2044137549 @default.
- W3093528466 cites W2046421695 @default.
- W3093528466 cites W2048553228 @default.
- W3093528466 cites W2060965924 @default.
- W3093528466 cites W2068681222 @default.
- W3093528466 cites W2076359272 @default.
- W3093528466 cites W2076479322 @default.
- W3093528466 cites W2080660780 @default.
- W3093528466 cites W2080809959 @default.
- W3093528466 cites W2083870688 @default.
- W3093528466 cites W2088612061 @default.
- W3093528466 cites W2091560981 @default.
- W3093528466 cites W2091888468 @default.
- W3093528466 cites W2096283457 @default.
- W3093528466 cites W2099328768 @default.
- W3093528466 cites W2101425604 @default.
- W3093528466 cites W2102213696 @default.
- W3093528466 cites W2102619694 @default.
- W3093528466 cites W2107126369 @default.
- W3093528466 cites W2108234281 @default.
- W3093528466 cites W2111281047 @default.
- W3093528466 cites W2111350087 @default.
- W3093528466 cites W2114034064 @default.
- W3093528466 cites W2119818111 @default.
- W3093528466 cites W2122732537 @default.
- W3093528466 cites W2123696077 @default.
- W3093528466 cites W2125432692 @default.
- W3093528466 cites W2126144698 @default.
- W3093528466 cites W2128505445 @default.
- W3093528466 cites W2129148650 @default.
- W3093528466 cites W2130940380 @default.
- W3093528466 cites W2132378736 @default.
- W3093528466 cites W2133257334 @default.
- W3093528466 cites W2136941319 @default.
- W3093528466 cites W2138601221 @default.
- W3093528466 cites W2139399606 @default.
- W3093528466 cites W2143602768 @default.
- W3093528466 cites W2144759168 @default.
- W3093528466 cites W2146005104 @default.
- W3093528466 cites W2146290346 @default.
- W3093528466 cites W2147733682 @default.
- W3093528466 cites W2148095347 @default.
- W3093528466 cites W2148802388 @default.
- W3093528466 cites W2150131459 @default.
- W3093528466 cites W2150491437 @default.
- W3093528466 cites W2151794156 @default.
- W3093528466 cites W2152359484 @default.
- W3093528466 cites W2154397429 @default.
- W3093528466 cites W2154448561 @default.
- W3093528466 cites W2155943701 @default.
- W3093528466 cites W2158485828 @default.
- W3093528466 cites W2160981405 @default.
- W3093528466 cites W2162116127 @default.
- W3093528466 cites W2163809592 @default.
- W3093528466 cites W2165823579 @default.
- W3093528466 cites W2168133698 @default.
- W3093528466 cites W2169744057 @default.
- W3093528466 cites W2170551349 @default.
- W3093528466 cites W2174938954 @default.
- W3093528466 cites W2175981288 @default.
- W3093528466 cites W2189991940 @default.
- W3093528466 cites W2190569576 @default.
- W3093528466 cites W2235737683 @default.
- W3093528466 cites W223909586 @default.
- W3093528466 cites W2262414037 @default.
- W3093528466 cites W2270303516 @default.
- W3093528466 cites W2272820807 @default.
- W3093528466 cites W2275877493 @default.
- W3093528466 cites W2291918440 @default.
- W3093528466 cites W2293733321 @default.
- W3093528466 cites W2299670551 @default.