Matches in SemOpenAlex for { <https://semopenalex.org/work/W2807558534> ?p ?o ?g. }
- W2807558534 endingPage "542" @default.
- W2807558534 startingPage "531" @default.
- W2807558534 abstract "In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus. Area covered: In this review, the authors summarize the evolution of array CGH technology from their diagnostic laboratory, highlighting exonic SNP arrays developed in the past decade which detect small intragenic copy number changes as well as large DNA segments for the region of heterozygosity. The applications of array CGH to human diseases with different modes of inheritance with the emphasis on autosomal recessive disorders are discussed. Expert commentary: An exonic array is a powerful and most efficient clinical tool in detecting genome wide small copy number variants in both dominant and recessive disorders. However, whole-genome sequencing may become the single integrated platform for detection of copy number changes, single-nucleotide changes as well as balanced chromosomal rearrangements in the near future." @default.
- W2807558534 created "2018-06-13" @default.
- W2807558534 creator A5061084392 @default.
- W2807558534 creator A5091907972 @default.
- W2807558534 date "2018-05-31" @default.
- W2807558534 modified "2023-10-17" @default.
- W2807558534 title "Novel applications of array comparative genomic hybridization in molecular diagnostics" @default.
- W2807558534 cites W1481143593 @default.
- W2807558534 cites W1484187172 @default.
- W2807558534 cites W1612622142 @default.
- W2807558534 cites W1628392279 @default.
- W2807558534 cites W1804576807 @default.
- W2807558534 cites W1815942373 @default.
- W2807558534 cites W1896227630 @default.
- W2807558534 cites W1963487910 @default.
- W2807558534 cites W1968046362 @default.
- W2807558534 cites W1968206926 @default.
- W2807558534 cites W1969211599 @default.
- W2807558534 cites W1969998265 @default.
- W2807558534 cites W1975430279 @default.
- W2807558534 cites W1977427979 @default.
- W2807558534 cites W1979069430 @default.
- W2807558534 cites W1981271870 @default.
- W2807558534 cites W1985236099 @default.
- W2807558534 cites W1987628193 @default.
- W2807558534 cites W1989215764 @default.
- W2807558534 cites W1991157854 @default.
- W2807558534 cites W1991633140 @default.
- W2807558534 cites W1993937384 @default.
- W2807558534 cites W1995556789 @default.
- W2807558534 cites W1997647094 @default.
- W2807558534 cites W1999022467 @default.
- W2807558534 cites W2002843742 @default.
- W2807558534 cites W2009536117 @default.
- W2807558534 cites W2016143291 @default.
- W2807558534 cites W2021491947 @default.
- W2807558534 cites W2023532519 @default.
- W2807558534 cites W2032109326 @default.
- W2807558534 cites W2032794174 @default.
- W2807558534 cites W2034657403 @default.
- W2807558534 cites W2034695004 @default.
- W2807558534 cites W2035380874 @default.
- W2807558534 cites W2050441340 @default.
- W2807558534 cites W2050504241 @default.
- W2807558534 cites W2059707376 @default.
- W2807558534 cites W2065410176 @default.
- W2807558534 cites W2067466498 @default.
- W2807558534 cites W2070896105 @default.
- W2807558534 cites W2088768513 @default.
- W2807558534 cites W2090717238 @default.
- W2807558534 cites W2102941013 @default.
- W2807558534 cites W2105504698 @default.
- W2807558534 cites W2110793364 @default.
- W2807558534 cites W2112660509 @default.
- W2807558534 cites W2116792431 @default.
- W2807558534 cites W2123251139 @default.
- W2807558534 cites W2124874299 @default.
- W2807558534 cites W2124908019 @default.
- W2807558534 cites W2126244930 @default.
- W2807558534 cites W2128274087 @default.
- W2807558534 cites W2131587128 @default.
- W2807558534 cites W2138956466 @default.
- W2807558534 cites W2139345487 @default.
- W2807558534 cites W2144316033 @default.
- W2807558534 cites W2144967747 @default.
- W2807558534 cites W2146124181 @default.
- W2807558534 cites W2147375281 @default.
- W2807558534 cites W2151974707 @default.
- W2807558534 cites W2154951784 @default.
- W2807558534 cites W2159701771 @default.
- W2807558534 cites W2160966021 @default.
- W2807558534 cites W2163177727 @default.
- W2807558534 cites W2168004538 @default.
- W2807558534 cites W2168181438 @default.
- W2807558534 cites W2168909179 @default.
- W2807558534 cites W2169279496 @default.
- W2807558534 cites W2170828133 @default.
- W2807558534 cites W2172269228 @default.
- W2807558534 cites W2415105991 @default.
- W2807558534 cites W2550136811 @default.
- W2807558534 cites W2598900401 @default.
- W2807558534 cites W2609685992 @default.
- W2807558534 cites W2719068820 @default.
- W2807558534 cites W2759659487 @default.
- W2807558534 cites W2764059671 @default.
- W2807558534 cites W4237134069 @default.
- W2807558534 cites W4238278966 @default.
- W2807558534 cites W4243840863 @default.
- W2807558534 cites W4253884401 @default.
- W2807558534 doi "https://doi.org/10.1080/14737159.2018.1479253" @default.
- W2807558534 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29848116" @default.
- W2807558534 hasPublicationYear "2018" @default.
- W2807558534 type Work @default.
- W2807558534 sameAs 2807558534 @default.
- W2807558534 citedByCount "27" @default.
- W2807558534 countsByYear W28075585342018 @default.
- W2807558534 countsByYear W28075585342019 @default.
- W2807558534 countsByYear W28075585342020 @default.