Skip to main content
Premium Trial:

Request an Annual Quote

Clinical Sequencing Papers of Note: Apr 26, 2011


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

Support for Moderna Booster

An FDA advisory committee supports authorizing a booster for Moderna's SARS-CoV-2 vaccine, CNN reports.

Testing at UK Lab Suspended

SARS-CoV-2 testing at a UK lab has been suspended following a number of false negative results.

J&J CSO to Step Down

The Wall Street Journal reports that Paul Stoffels will be stepping down as chief scientific officer at Johnson & Johnson by the end of the year.

Science Papers Present Proteo-Genomic Map of Human Health, Brain Tumor Target, Tool to Infer CNVs

In Science this week: gene-protein-disease map, epigenomic and transcriptomic approach highlights potential therapeutic target for gliomas, and more