Parseq Laboratory Co.

Saint Petersburg, Russia

Parseq Laboratory Co.

Saint Petersburg, Russia

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Simakova T.,Parseq Laboratory Co. | Kondratyeva E.,Research Center for Medical Genetics | Avakian L.,Russian Childrens Clinical Hospital | Bragin A.,Parseq Laboratory Co. | And 2 more authors.
Gene | Year: 2015

A novel combination of two rare pathogenic cystic fibrosis-causing mutations, p.S1159P and p.Y569H, was detected in a patient of 17. years age who suffered from pancreatic insufficiency of unknown etiology. Both mutations were previously described in compound heterozygous patients with moderate lung disease, who carried p.F508del on the other allele. However, this newly described combination of alleles is unusually associated with general gastrointestinal manifestations. Both mutations managed to be identified by virtue of using the Ion PGM™ next-generation sequencing (NGS) platform, thereby making our work a "proof of concept" for clinical application of a new NGS technology in conjunction with the developed software for variant annotation. © 2015 Elsevier B.V.


PubMed | Parseq Laboratory Co., Research Center for Medical Genetics and Russian Childrens Clinical Hospital
Type: Case Reports | Journal: Gene | Year: 2015

A novel combination of two rare pathogenic cystic fibrosis-causing mutations, p.S1159P and p.Y569H, was detected in a patient of 17 years age who suffered from pancreatic insufficiency of unknown etiology. Both mutations were previously described in compound heterozygous patients with moderate lung disease, who carried p.F508del on the other allele. However, this newly described combination of alleles is unusually associated with general gastrointestinal manifestations. Both mutations managed to be identified by virtue of using the Ion PGM next-generation sequencing (NGS) platform, thereby making our work a proof of concept for clinical application of a new NGS technology in conjunction with the developed software for variant annotation.


Pilshchikova N.S.,Parseq Laboratory Co. | Gannibal Ph.B.,All Russian Institute of Plant Protection
Mikologiya I Fitopatologiya | Year: 2016

The genus Rhizoctonia s. l. is a formal taxon developed to combine miscellaneous fungi which have no asexual sporulation and usually represent soil plant pathogens. This fungal complex has very few morphological taxonomically valuable traits. Systematics of these fungi is knotty and sometimes contradictory. The aim of this review is to arrange information about Rhizoctonia s. l. diversity and to provide up to date system of this complex. Species previously included in the genus Rhizoctonia now are distributed among seven genera of four orders of two phyla. More than hundred species were described under generic name Rhizoctonia and only a dozen are included in Rhizoctonia s. str. Their teleomorphs are placed in the family Ceratobasidiaceae. A number of species were transferred into the genus Moniliopsis. However, since the epithet Rhizoctonia solani was used very widely it was saved and established as a generic type. During the last time Rhizoctonia s. str. species usually are indicated by their teleomorph Thanatephorus, which has the type (Thanatephorus cucumeris) synonymic to Rhizoctonia solani. Two teleomorphic genera associated with Rhizoctonia-complex, Ceratobasidium and Waitea, belonging to the same family as Ceratobasidium are mentioned in the phytopathological literature less often. Waitea anamorphs are usually indicated as Rhizoctonia (R. zeae and R. oryzae), besides the last epithet is invalid. The correct name for both fungi is Waitea circinata. In the practical work to differentiate Rhizoctonia-like fungi two characters are used - nuclei number in the cells and ability of hyphae of different strains to form anastomoses. The last feature is used to designate so-called anastomosis groups (AG). Isolates of R. solani (multinucleate Rhizoctonia) are divided into 13 AG labeled by numbers. Ecological and genetic features enabled to describe several subgroups within five main AG (AG-1, 2, 3, 4, 6). Within Ceratobasidium cornigerum (binucleate Rhizoctonia) at least 16 AG were described and labeled by letters. Taxonomic status and biological essence of the anastomosis groups and subgroups now is not clear enough. Biochemical and molecular phylogenetic markers have been utilized for better understanding of Rhizoctonia s. l. biodiversity. But the list of massively sequenced Rhizoctonia genes as well as their informativeness is rather modest. Thus phylogeny of Rhizoctonia- complex is not still well understood and Rhizoctonia taxonomy and nomenclature are debatable.

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