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Article

Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2021

Hamzeh Abdul Rezzak, Andrews T Daniel, Field Matt A

Abstract excerpt

Increasingly affordable sequencing technologies are revolutionizing the field of genomic medicine. It is now feasible to interrogate all major classes of variation in an individual across the entire genome for less than $1000 USD. While the generation of patient sequence information using these technologies has become routine, the analysis and interpretation of this data remains the greatest obstacle to...

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PMID: 33606250
DOI: 10.1007/978-1-0716-1103-6_1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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