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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

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Related Experiment Video

Updated: Dec 25, 2025

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

Identification of two novel LDLR variants by Next Generation Sequencing.

Simona Moffa¹, Giorgia Mazzuccato², Maria De Bonis²

¹Endocrinologia e Diabetologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy - Istituto Patologia Speciale Medica, Università Cattolica del Sacro Cuore, Rome, Italy.

Annali Dell'Istituto Superiore Di Sanita

|April 4, 2020

Summary

Next Generation Sequencing (NGS) identified two novel low-density lipoprotein receptor (LDLR) variants in familial hypercholesterolemia (FH) patients, enabling definitive diagnosis and treatment planning.

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Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

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Published on: August 26, 2020

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Area of Science:

Genetics
Molecular Biology
Cardiovascular Disease

Background:

Familial hypercholesterolemia (FH) is an autosomal dominant disorder causing elevated LDL-C.
Targeted Next Generation Sequencing (NGS) offers a powerful approach to identify genetic variants associated with FH.
Expanding the spectrum of pathogenic variants (PVs) is crucial for FH diagnosis.

Observation:

Two patients, a 48-year-old Asian woman and a 46-year-old Caucasian man, presented with hypercholesterolemia.
The Caucasian man had a history of childhood hypercholesterolemia.

Findings:

An effective NGS pipeline (FH-Devyser kit/Amplicon Suite) was employed for variant detection.
No known pathogenic variants were found in common FH-associated genes (LDLR, APOB, APOE, LDLRAP1, STAP1, PCSK9).
Two novel LDLR variants (c.1564A>T, p.Ile522Phe and c.1688C>T, p.Pro563Leu) were identified.

Implications:

The NGS pipeline facilitated a definitive FH diagnosis for both families.
Early diagnosis enables timely therapeutic interventions for FH patients.
In silico analysis suggests the novel LDLR variants are likely deleterious, warranting further in vitro functional assessment.