McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. Sambamba: fast processing of NGS alignment formats. Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P. 2019 314–24.ĭanecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, et al. In: Proceedings of the IEEE international parallel and distributed processing symposium (IPDPS). Efficient architecture-aware acceleration of BWA-MEM for multicore systems. fastp: an ultra-fast all-in-one FASTQ preprocessor. Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views. Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients. Quaio CRDC, Chung CH, Perazzio SF, Dutra AP, Moreira CM, Filho GMN, et al. Secondary findings in 421 whole exome-sequenced Chinese children. A comprehensive strategy for exome-based preconception carrier screening. Sallevelt SCEH, de Koning B, Szklarczyk R, Paulussen ADC, de Die-Smulders CEM, Smeets HJM. Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen. 2020 21:216.īeauchamp KA, Johansen Taber KA, Muzzey D. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, et al. Changing trends in carrier screening for genetic disease in the United States. Current controversies in traditional and expanded carrier screening. 691: carrier screening for genetic conditions. Carrier screening for recessive disorders. By comparing with three different expanded carrier screening gene panels, we further confirmed carrier screening based on WES could offer more comprehensive assessment and WES was applicable for carrier screening.Īntonarakis SE. These results can provide a strong basis for preventing and avoiding the prevalence rates of birth defects and reducing social and family burdens. We also found 9 late-onset or atypical symptoms autosomal/X-linked dominant Mendelian disorders causative genes, which were easily overlooked during pathogenicity analysis. GJB2: NM_004004.6:c.299_300delAT:p.His100fs*14 and C6:NM_000065.4:c.654T>A:p.Cys218* were found in two or more patients, which might be two underestimated carrier variants in Chinese population. Totally 83 novel P or LP variants were identified which could further expand the carrier variants spectrum of the Chinese population. Contrary to expectations, the number of P or LP variants did not increase with larger chromosome size or decrease with smaller chromosome size. Whole exome-wide frequency of carriers for Mendelian disorders in Chinese adult patients was about 78.13% in this study, which was lower than the previously reported carrier frequency in healthy population. A total of 224 Chinese adult patients WES data was analyzed, except positive variants associated with the patients’ major complaint, 378 pathogenic (P) and “likely pathogenic” (LP) variants from 175 adult patients were identified. Carrier screening based on whole exome sequencing (WES) data can offer more comprehensive assessment than on-target carrier screening tests. Carrier screening can identify people at risk of conceiving pregnancies affected with inherited genetic disorders or who have a genetic disorder with late or variable onset.
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