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Clinical Sequencing Papers of Note: Mar 29, 2011


Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
Liu Y, Gao M, Lv YM, et al.
J Invest Dermatol. 2011 Mar 24. [Epub ahead of print]

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Gilling M, Lind-Thomsen A, Mang Y, et al.
Eur J Med Genet. 2011 Mar 19. [Epub ahead of print]

Blood ties: chimerism can mask twin discordance in high-throughput sequencing.
Erlich Y.
Twin Res Hum Genet. 2011 Apr;14(2):137-43.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Gauthier J, Siddiqui TJ, Huashan P, et al.
Hum Genet. 2011 Mar 22. [Epub ahead of print]

Strong association between HLA-B*1502 and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in mainland Han Chinese patients.
Zhang Y, Wang J, Zhao LM, et al.
Eur J Clin Pharmacol. 2011 Mar 19. [Epub ahead of print]

Autosomal recessive Stickler syndrome in two families caused by mutations in the COL9A1 gene.
Nikopoulos K, Schrauwen I, Simon M, et al.
Invest Ophthalmol Vis Sci. 2011 Mar 18. [Epub ahead of print]

The Scan

Billions for Antivirals

The US is putting $3.2 billion toward a program to develop antivirals to treat COVID-19 in its early stages, the Wall Street Journal reports.

NFT of the Web

Tim Berners-Lee, who developed the World Wide Web, is auctioning its original source code as a non-fungible token, Reuters reports.

23andMe on the Nasdaq

23andMe's shares rose more than 20 percent following its merger with a special purpose acquisition company, as GenomeWeb has reported.

Science Papers Present GWAS of Brain Structure, System for Controlled Gene Transfer

In Science this week: genome-wide association study ties variants to white matter stricture in the brain, and more.