Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline

Dylan A Mordaunt; Julien Soubrier; Song Gao; Lesley Rawlings; Jillian Nicholl; Sui Yu; Janice Fletcher; Karin Kassahn

doi:10.1016/j.pathol.2020.01.370

Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline

Dylan A Mordaunt, Julien Soubrier, Song Gao, Lesley Rawlings, Jillian Nicholl, Sui Yu, Janice Fletcher, Karin Kassahn

Research output: Contribution to journal › Article › peer-review

Abstract

Background: Next generation sequencing (NGS) provides the opportunity to detect not only single nucleotide variants and small indels, but also larger whole exon or whole gene deletions and duplications (CNVs).

Original language	English
Pages (from-to)	S108
Number of pages	1
Journal	Pathology
Volume	52
Issue number	Supplement 1
DOIs	https://doi.org/10.1016/j.pathol.2020.01.370
Publication status	Published - Feb 2020
Externally published	Yes

Keywords

Variation calling
Clinical
Generation Sequencing Pipeline

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title = "Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline",

abstract = "Background: Next generation sequencing (NGS) provides the opportunity to detect not only single nucleotide variants and small indels, but also larger whole exon or whole gene deletions and duplications (CNVs).",

keywords = "Variation calling, Clinical, Generation Sequencing Pipeline",

author = "Mordaunt, {Dylan A} and Julien Soubrier and Song Gao and Lesley Rawlings and Jillian Nicholl and Sui Yu and Janice Fletcher and Karin Kassahn",

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doi = "10.1016/j.pathol.2020.01.370",

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AU - Mordaunt, Dylan A

AU - Soubrier, Julien

AU - Gao, Song

AU - Rawlings, Lesley

AU - Nicholl, Jillian

AU - Yu, Sui

AU - Fletcher, Janice

AU - Kassahn, Karin

PY - 2020/2

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N2 - Background: Next generation sequencing (NGS) provides the opportunity to detect not only single nucleotide variants and small indels, but also larger whole exon or whole gene deletions and duplications (CNVs).

AB - Background: Next generation sequencing (NGS) provides the opportunity to detect not only single nucleotide variants and small indels, but also larger whole exon or whole gene deletions and duplications (CNVs).

KW - Variation calling

KW - Clinical

KW - Generation Sequencing Pipeline

U2 - 10.1016/j.pathol.2020.01.370

DO - 10.1016/j.pathol.2020.01.370

M3 - Article

SN - 0031-3025

VL - 52

SP - S108

JO - Pathology

JF - Pathology

IS - Supplement 1

ER -

Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline

Abstract

Keywords

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