Skip to main content
Premium Trial:

Request an Annual Quote

Last Week's Clinical Sequencing Papers of Note: Oct 19, 2011


Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H, Suzuki S, Mizuguchi T, Imoto K, et al.
Hum Genet. 2011 Oct 15. [Epub ahead of print]

Pyrosequencing analysis of the apical root canal microbiota.
Siqueira JF Jr, Alves FR, Rôças IN.
J Endod. 2011 Nov;37(11):1499-503.

Guidelines for genetic testing of inherited cardiac disorders.
Ingles J, Zodgekar PR, Yeates L, Macciocca I, et al.
Heart Lung Circ. 2011 Nov;20(11):681-7.

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.
Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, et al.
Blood. 2011 Oct 12. [Epub ahead of print]

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, et al.
N Engl J Med. 2011 Oct 13;365(15):1384-1395.

A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
Bannwarth S, Abbassi M, Valéro R, Fragaki K, et al.
Diabetes Care. 2011 Oct 12. [Epub ahead of print]

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
Bertolin C, Magri C, Barlati S, Vettori A, et al.
J Hum Genet. 2011 Oct 13. [Epub ahead of print]

A survey of small RNAs in human sperm.
Krawetz SA, Kruger A, Lalancette C, Tagett R, et al.
Hum Reprod. 2011 Oct 11. [Epub ahead of print]

Establishing the baseline level of repetitive element expression in the human cortex.
Tyekucheva S, Yolken RH, McCombie WR, Parla J, et al.
BMC Genomics. 2011 Oct 10;12(1):495.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.