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Article

Inferring compound heterozygosity from large-scale exome sequencing data.

Nature genetics - 1 Jan 2024

Guo Michael H, Francioli Laurent C, Stenton Sarah L, Goodrich Julia K, Watts Nicholas A, Singer-Berk Moriel, Groopman Emily, Darnowsky Philip W, Solomonson Matthew, Baxter Samantha, Tiao Grace, Neale Benjamin M, Hirschhorn Joel N, Rehm Heidi L, Daly Mark J, O'Donnell-Luria Anne, Karczewski Konrad J, MacArthur Daniel G, Samocha Kaitlin E

Abstract excerpt

Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing,...

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PMID: 38057443
DOI: 10.1038/s41588-023-01608-3
PMCID: PMC10872287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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