Bioinformatics in Clinical Genomic Sequencing

Affiliations

¹ Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA; Pathology, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA; Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: mlebo@bwh.harvard.edu.
² Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

Review

Matthew S Lebo et al. Clin Lab Med. 2020 Jun.

. 2020 Jun;40(2):163-187.

doi: 10.1016/j.cll.2020.02.003.

¹ Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA; Pathology, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA; Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: mlebo@bwh.harvard.edu.
² Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

No abstract available

Keywords: Alignment; Annotation; Bioinformatic infrastructure; Exome sequencing; Filtration; Genome sequencing; Validation; Variant calling.

Publication types