Skip to main content

Clinical Sequencing Papers of Note: Apr 26, 2011

Premium

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
BMC Med Genet. 2011 Apr 22;12(1):56.


Analysis of HIV-1 expression level and sense of transcription by high-throughput sequencing of the infected cell.
Lefebvre G, Desfarges S, Uyttebroeck F, et al.
J Virol. 2011 Apr 20.


SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
Pantaleo MA, Astolfi A, Indio V, et al.
J Natl Cancer Inst. 2011 Apr 19.


Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
Welch JS, Westervelt P, Ding L, et al.
JAMA. 2011 Apr 20;305(15):1577-1584.


Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, Schuettpelz LG, Shen D, et al.
JAMA. 2011 Apr 20;305(15):1568-1576.


The Scan

Pfizer-BioNTech Seek Full Vaccine Approval

According to the New York Times, Pfizer and BioNTech are seeking full US Food and Drug Administration approval for their SARS-CoV-2 vaccine.

Viral Integration Study Critiqued

Science writes that a paper reporting that SARS-CoV-2 can occasionally integrate into the host genome is drawing criticism.

Giraffe Species Debate

The Scientist reports that a new analysis aiming to end the discussion of how many giraffe species there are has only continued it.

Science Papers Examine Factors Shaping SARS-CoV-2 Spread, Give Insight Into Bacterial Evolution

In Science this week: genomic analysis points to role of human behavior in SARS-CoV-2 spread, and more.