Bioinformatics in Clinical Genomic Sequencing - 19/05/20
Doi : 10.1016/j.cll.2020.02.003
Matthew S. Lebo, PhD a, b, c, ⁎ 
, Limin Hao, PhD a, Chiao-Feng Lin, PhD a, Arti Singh, MS a
, Limin Hao, PhD a, Chiao-Feng Lin, PhD a, Arti Singh, MS a a Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
b Pathology, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA
c Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115, USA
∗Corresponding author.
Keywords : Genome sequencing, Exome sequencing, Alignment, Variant calling, Annotation, Filtration, Validation, Bioinformatic infrastructure
Plan
| This article originally appeared in Advances in Molecular Pathology, Volume 1, 2018. |
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| Disclosure: The authors have nothing to disclose. |
© 2020
Elsevier Inc. Tous droits réservés.
Vol 40 - N° 2
P. 163-187 - juin 2020 Retour au numéro
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