Results 1 to 10 of about 823,839 (283)

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study. [PDF]

Epilepsia Open
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Pirker AP, Ernst M, Wagner M, Bonelli SB, Trimmel K, Jud J, Graf E, Dorfer C, Rössler K, Aull-Watschinger S, Pataraia E, Zimprich F, Krenn M.   +12 more
europepmc   +2 more sources

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders. [PDF]

iScience
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Marcelino-Rodríguez I, Rodríguez-Pérez MDC, Cabrera-de León A, González-Montelongo R, Cruz-Guerrero R, Carracedo Á, Flores C.   +13 more
europepmc   +1 more source

Whole Exome Sequencing [PDF]

, 2020
openaire   +1 more source

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing. [PDF]

Genes (Basel)
Theodosiou A, Kousoulidou L, Papaevripidou I, Aristidou C, Alexandrou A, Hadjipanteli A, Votsi C, Tomazou M, Menelaou S, Efstathiou D, Ioannou Y, Athanasiou E, Papamichael E, Christophidou-Anastasiadou V, Ourani S, Evangelidou P, Tanteles GA, Sismani C.   +17 more
europepmc   +1 more source

Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis. [PDF]

PLoS One
Li TQ, Zhang Q, Wang HJ, Ma ZF, Lu BY, Hou KG, Zhang XY.   +6 more
europepmc   +1 more source

GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data. [PDF]

Cancer Inform
Bambach NE, Ricarte-Filho JC, Reichenberger ER, Franco AT.   +3 more
europepmc   +1 more source

The case for caution in the application of whole-exome sequencing data for immune repertoire analysis. [PDF]

Brief Bioinform
Gong Z, Zhang W, Du B, Wu H, Li S.
europepmc   +1 more source

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources. [PDF]

Int J Mol Sci
Verdura E, Montalbán-Casafont A, Solé X, Titos E, González-Roca E, Sánchez-Cárdenas C, López V, Palau N, Sánchez P, Mendoza-Cantero A, Rodriguez-Elena L, Jiménez D, Paredes-Fuentes AJ, Gort L, Rodríguez-Revenga L, Madrigal I, López-Púa Y, García-Villoria J, Badenas C, Villanueva-Cañas JL, Puig-Butillé JA.   +20 more
europepmc   +1 more source

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source