Bouras(A),Lefol(C),Ruano(E),Grand-Masson(C),… Genes Chromosomes Cancer 2024-00-00

...PMS2CL which shares a high sequence homology with PMS2. Consequently, short-fragment screening strategies (NGS, Sanger) ...

Munté(E),Feliubadaló(L),Del Valle(J),Gonzále… J Mol Diagn 2024-08-00

...PMS2CL pseudogene. Next-generation sequencing short reads cannot be mapped unambiguously by standard pipelines, compromi...

Segura(AVC),da Silva(SIO),Santiago(KM),Brian… Fam Cancer 2024-11-00

...PMS2CL pseudogene that has been incorrectly assigned to PMS2 with different nomenclatures. We reviewed data from 647 Bra...

Paixão(D),Lima(THA),de Souza(RRF),Carnavalli… Front Oncol 2024-00-00

...PMS2CL pseudogene presents high homology with PMS2, challenging molecular diagnosis by next-generation sequencing (NGS)....

Mistry(NA),Roellinger(SE),Manninen(MC),Gandh… J Mol Diagn 2024-09-00

...PMS2CL, and is often supplemented by long-range-based approaches, such as long-range PCR or long-read-based next-generat...

Cappadocia(J),Aiello(LB),Kelley(MJ),Katona(B… Genet Med Open 2024-00-00

...PMS2CL pseudogene. PMS2 c.2523G>A p.(W841∗), when identified, is typically an African-ancestry-specific PMS2CL pseudogen...

Gervas(P),Molokov(A),Babyshkina(N),Kiselev(A… Asian Pac J Cancer Prev 2022-06-01

...PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, and XRCC2. Paired-end sequencing (2 x 150 bp) was conducted using Next...

Gervas(P),Molokov(A),Ivanova(A),Panferova(Y)… Exp Oncol 2021-00-00

...PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Next-generation sequencing was performed using the Illumina...

Stephens(Z),Milosevic(D),Kipp(B),Grebe(S),Iy… Front Genet 2021-00-00

...PMS2CL using simulated reads sweeping over a range of sequencing error rates. We then apply PB-Motif to 26 clinical samp...

Chong(AS),Chong(G),Foulkes(WD),Saskin(A) Hum Mutat 2020-00-00

...PMS2CL. This result is not only important for patients but also highlights a weakness in short-read NGS technologies and...