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Clinical Sequencing Papers of Note: Apr 19, 2011


Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, et al.
Genome Res. 2011 Apr 12. [Epub ahead of print]

The airway microbiome in cystic fibrosis and implications for treatment.
Zemanick ET, Sagel SD, Harris JK.
Curr Opin Pediatr. 2011 Apr 13. [Epub ahead of print]

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, et al.
J Med Genet. 2011 Apr 14. [Epub ahead of print]

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, et al.
Hum Mol Genet. 2011 Apr 14. [Epub ahead of print]

Molecular characterization of lapinized classical swine fever vaccine strain by full-length genome sequencing and analysis.
Gupta PK, Saini M, Dahiya SS, Patel CL, Sonwane AA, Rai DV, Pandey KD.
Anim Biotechnol. 2011 Apr;22(2):111-7.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: The WASH complex member SWIP.
Ropers F, Derivery E, Hu H, et al.
Hum Mol Genet. 2011 Apr 15. [Epub ahead of print]

The Scan

J&J Booster Support

A US Food and Drug Administration advisory panel has voted to support a booster dose of Johnson & Johnson's SARS-CoV-2 vaccine, according to the Los Angeles Times.

To Keep the Cases Moving

The president of the UK Royal College of Pathologists tells the Financial Times that more investment is needed to tackle a backlog of cases.

NAS Expels Archaeologist

Science reports Luis Jaime Castillo Butters' expulsion is the first of an international member from the US National Academy of Sciences.

PLOS Papers on Angelman Syndrome-Like Cases, Salmonella Paratyphi A, SARS-CoV-2 in Brazil

In PLOS this week: exome sequencing analysis of Angelman syndrome-like cases, genetic epidemiology of Salmonella Paratyphi A, and more.