Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-BolardFlavie DiguetNicolas ChatronPierre-Antoine Rollat-FarnierClaire BardelAlexandra AfenjarFlorence AmblardJeanne AmielSophie BlessonPatrick CallierYline CapriPatrick CollignonMarie-Pierre CordierChristine CoubesBenedicte DemeerAnnabelle ChaussenotFlorence DemurgerFrançoise DevillardMartine Doco-FenzyCéline DupontJean-Michel DupontSophie Dupuis-GirodLaurence FaivreBrigitte Gilbert-DussardierAnne-Marie GuerrotMarine HoulierBertrand IsidorSylvie JaillardGéraldine Joly-HélasValérie KremerDidier LacombeCédric Le CaignecAziza LebbarMarine LebrunGaetan LescaJames LespinasseJonathan LevyValérie MalanMichele Mathieu-DramardJulie MassonAlice Masurel-PauletCyril MignotChantal MissirianFanny Morice-PicardSébastien MouttonGwenaël NadeauCéline Pebrel-RichardSylvie OdentVéronique Paquis-FlucklingerLaurent PasquierNicole PhilipMorgane PlutinoLinda PonsMarie-France PortnoïFabienne PrieurJacques PuechbertyAudrey PutouxMarlène RioCaroline Rooryck-ThamboMassimiliano RossiCatherine SarretVéronique SatreJean-Pierre SiffroiMarianne TillRenaud TouraineAnnick ToutainJérome ToutainStéphanie ValenceAlain VerloesSandra WhalenPatrick EderyAnne-Claude TabetDamien SanlavillePublished in: Journal of medical genetics (2019)
Paired-end WGS is a valid strategy and may be used for structural variation characterisation in a clinical setting.
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