Clinical genetics

Definition

Clinical genetics involves the study, counselling and treatment of individuals and families with heritable disorders and disease predisposition. Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and genotyping.

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Latest Research and Reviews

  • Research |

    Ian Alexander and colleagues characterize a liver-specific enhancer–promoter element that is found in the genome of wild-type adeno-associated virus type 2 (AAV2), from which gene transfer vectors have been derived. They suggest that these sequences could provide a possible link between AAV integration events in the liver and gene dysregulation and pathogenesis.

    • Grant J Logan
    • , Allison P Dane
    • , Claus V Hallwirth
    • , Christine M Smyth
    • , Emilie E Wilkie
    • , Anais K Amaya
    • , Erhua Zhu
    • , Neeta Khandekar
    • , Samantha L Ginn
    • , Sophia H Y Liao
    • , Sharon C Cunningham
    • , Natsuki Sasaki
    • , Martí Cabanes-Creus
    • , Patrick P L Tam
    • , David W Russell
    • , Leszek Lisowski
    •  & Ian E Alexander
  • Reviews |

    Technical errors can hamper the interpretation of next-generation sequencing (NGS) data, which poses a major challenge for the clinical application of this technology. This Review discusses how reference standards circumvent this issue by calibrating NGS measurements and evaluating diagnostic performance of NGS-based genetic tests.

    • Simon A. Hardwick
    • , Ira W. Deveson
    •  & Tim R. Mercer
  • Research | | open

    • S H Witt
    • , F Streit
    • , M Jungkunz
    • , J Frank
    • , S Awasthi
    • , C S Reinbold
    • , J Treutlein
    • , F Degenhardt
    • , A J Forstner
    • , S Heilmann-Heimbach
    • , L Dietl
    • , C E Schwarze
    • , D Schendel
    • , J Strohmaier
    • , A Abdellaoui
    • , R Adolfsson
    • , T M Air
    • , H Akil
    • , M Alda
    • , N Alliey-Rodriguez
    • , O A Andreassen
    • , G Babadjanova
    • , N J Bass
    • , M Bauer
    • , B T Baune
    • , F Bellivier
    • , S Bergen
    • , A Bethell
    • , J M Biernacka
    • , D H R Blackwood
    • , M P Boks
    • , D I Boomsma
    • , A D Børglum
    • , M Borrmann-Hassenbach
    • , P Brennan
    • , M Budde
    • , H N Buttenschøn
    • , E M Byrne
    • , P Cervantes
    • , T-K Clarke
    • , N Craddock
    • , C Cruceanu
    • , D Curtis
    • , P M Czerski
    • , U Dannlowski
    • , T Davis
    • , E J C de Geus
    • , A Di Florio
    • , S Djurovic
    • , E Domenici
    • , H J Edenberg
    • , B Etain
    • , S B Fischer
    • , L Forty
    • , C Fraser
    • , M A Frye
    • , J M Fullerton
    • , K Gade
    • , E S Gershon
    • , I Giegling
    • , S D Gordon
    • , K Gordon-Smith
    • , H J Grabe
    • , E K Green
    • , T A Greenwood
    • , M Grigoroiu-Serbanescu
    • , J Guzman-Parra
    • , L S Hall
    • , M Hamshere
    • , J Hauser
    • , M Hautzinger
    • , U Heilbronner
    • , S Herms
    • , S Hitturlingappa
    • , P Hoffmann
    • , P Holmans
    • , J-J Hottenga
    • , S Jamain
    • , I Jones
    • , L A Jones
    • , A Juréus
    • , R S Kahn
    • , J Kammerer-Ciernioch
    • , G Kirov
    • , S Kittel-Schneider
    • , S Kloiber
    • , S V Knott
    • , M Kogevinas
    • , M Landén
    • , M Leber
    • , M Leboyer
    • , Q S Li
    • , J Lissowska
    • , S Lucae
    • , N G Martin
    • , F Mayoral-Cleries
    • , S L McElroy
    • , A M McIntosh
    • , J D McKay
    • , A McQuillin
    • , B W J H Penninx
    • , M Schwarz
    • , S Ripke
    • , G A Rouleau
    • , J B Vincent
    • , D Rujescu
    • , J B Potash
    • , E A Stahl
    • , B Müller-Myhsok
    • , C Schmahl
    • , M Preisig
    • , H Vedder
    • , R M Myers
    • , M J Owen
    • , Schizophrenia Working Group of the Psychiatric Genomics Consortium
    • , O Mors
    • , H S Xi
    • , N R Wray
    • , N Dahmen
    • , J I Nurnberger
    • , C M Middeldorp
    • , A Mobascher
    • , S Cichon
    • , A Pfennig
    • , J Strauss
    • , S Roepke
    • , G C B Sinnamon
    • , A Reif
    • , L M O Loohuis
    • , Bipolar Disorders Working Group of the Psychiatric Genomics Consortium
    • , G Morken
    • , A Tadic
    • , Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
    • , G Turecki
    • , M Bohus
    • , S E Medland
    • , P R Schofield
    • , S Van der Auwera
    • , Y Milaneschi
    • , A Perry
    • , L Oruc
    • , R Ophoff
    • , T G Schulze
    • , F Rivas
    • , M Rietschel
    • , L Scott
    • , M C O'Donovan
    • , C M Nievergelt
    • , G W Montgomery
    • , M M Nöthen
    • , P B Mitchell
    • , K Lieb
    • , B H Schott
    • , C C Witt
    • , G Willemsen
    • , S A Paciga
    •  & T W Mühleisen

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