Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.

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Veröffentlicht in:Genetics in Medicine 2016-02, Vol.18 (2), p.189-98
Hauptverfasser: D'Alessandro, Lisa C.A, Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M, Bergin, Lynn, Rosenberg, Herschel C, Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koenraad, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E, Mital, Seema
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Sprache:eng
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Zusammenfassung:The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.
ISSN:1098-3600