Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17

Article Hematology

Disease progression and clinical outcomes in telomere biology disorders

Marena R. Niewisch et al.

Summary: This study examined the associations between mode of inheritance in Dyskeratosis congenita related telomere biology disorders (DC/TBDs) and the clinical manifestations and long-term outcomes. The results showed that different modes of inheritance were correlated with different clinical presentations, and they also had an impact on the survival of patients.

BLOOD (2022)

添加到收藏夹

Article Hematology

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Lisa J. McReynolds et al.

Summary: Some patients with severe aplastic anemia may have an unrecognized inherited bone marrow failure syndrome due to phenotypic heterogeneity. Through exome sequencing, it was found that approximately 6.6% of patients had unrecognized inherited bone marrow failure syndrome, while carriers of X-linked recessive pathogenic variants were also included. Patients with unrecognized inherited bone marrow failure syndrome had lower survival rates after hematopoietic cell transplant.

BLOOD (2022)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Jonathan Foox et al.

Summary: The study assesses the performance of various massively parallel DNA sequencing platforms on human and bacterial samples, with HiSeq 4000 and X10 performing best among short-read instruments, PacBio CCS leading in long-read instruments, and NovaSeq 6000 being the most effective for capturing insertion/deletion events.

NATURE BIOTECHNOLOGY (2021)

添加到收藏夹

Article Cell Biology