Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Raphaël LemanHélène TubeufSabine RaadIsabelle TournierCéline DerambureRaphaël LanosPascaline GaildratGaia CastelainJulie HauchardAudrey KillianStéphanie Baert-DesurmontAngelina LegrosNicolas GoardonCéline QuesnelleAgathe RicouLaurent CasteraDominique VaurGérald Le GacChandran KaYann FichouFrançoise Bonnet-DorionNicolas SevenetMarine Guillaud-BatailleNadia Boutry-KryzaInès SchultzVirginie Caux-MoncoutierMaria RossingLogan C WalkerAmanda B SpurdleClaude HoudayerAlexandra MartinsSophie Krieger

Published in: BMC genomics (2020)

Our investigations revealed that Branchpointer was optimal to detect BPs upstream of 3'ss, and that BPP was most relevant to predict splicing alteration due to variants in the BP area.

Keyphrases

copy number
single cell
gene expression
genome wide