Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.

Saved in:
Bibliographic Details
Title: Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Authors: Barbitoff, Yury A1,2, barbitoff@bioinf.me, Ushakov, Mikhail O1, Lazareva, Tatyana E1, Nasykhova, Yulia A1, Glotov, Andrey S1, barbitoff@bioinf.me, Predeus, Alexander V2, barbitoff@bioinf.me
Source: Briefings in Bioinformatics; Mar2024, Vol. 25 Issue 2, p1-15, 15p
Database: Applied Science & Technology Source
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 176218772
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Barbitoff%2C+Yury+A%22">Barbitoff, Yury A</searchLink><relatesTo>1,2</relatesTo>, <i>barbitoff@bioinf.me</i><br /><searchLink fieldCode="AU" term="%22Ushakov%2C+Mikhail+O%22">Ushakov, Mikhail O</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Lazareva%2C+Tatyana+E%22">Lazareva, Tatyana E</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Nasykhova%2C+Yulia+A%22">Nasykhova, Yulia A</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Glotov%2C+Andrey+S%22">Glotov, Andrey S</searchLink><relatesTo>1</relatesTo>, <i>barbitoff@bioinf.me</i><br /><searchLink fieldCode="AU" term="%22Predeus%2C+Alexander+V%22">Predeus, Alexander V</searchLink><relatesTo>2</relatesTo>, <i>barbitoff@bioinf.me</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Briefings+in+Bioinformatics%22">Briefings in Bioinformatics</searchLink>; Mar2024, Vol. 25 Issue 2, p1-15, 15p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=176218772
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/bib/bbad508
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 15
        StartPage: 1
    Titles:
      – TitleFull: Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Barbitoff, Yury A
      – PersonEntity:
          Name:
            NameFull: Ushakov, Mikhail O
      – PersonEntity:
          Name:
            NameFull: Lazareva, Tatyana E
      – PersonEntity:
          Name:
            NameFull: Nasykhova, Yulia A
      – PersonEntity:
          Name:
            NameFull: Glotov, Andrey S
      – PersonEntity:
          Name:
            NameFull: Predeus, Alexander V
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: Mar2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 14675463
          Numbering:
            – Type: volume
              Value: 25
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Briefings in Bioinformatics
              Type: main
ResultId 1