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List of works by Rajini Haraksingh

Child development and structural variation in the human genome

scientific article published on 13 January 2013

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562

scientific article published on 08 February 2019

Computational and Bioinformatics Frameworks for Next‐Generation Whole Exome and Genome Sequencing ⬇️

scientific article published on January 13, 2013

Detecting and annotating genetic variations using the HugeSeq pipeline

scientific article

Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

scientific article

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

scientific article

Impacts of variation in the human genome on gene regulation

scientific article

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

scientific journal article

Personal omics profiling reveals dynamic molecular and medical phenotypes

scientific article (publication date: 16 March 2012)

Personalizing rare disease research: how genomics is revolutionizing the diagnosis and treatment of rare disease

article

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