Article

Inferring compound heterozygosity from large-scale exome sequencing data

2023-03-23

Abstract excerpt

Recessive diseases arise when both the maternal and the paternal copies of a gene are impacted by a damaging genetic variant in the affected individual. When a patient carries two different potentially causal variants in a gene for a given disorder, accurate diagnosis requires determining that these two variants occur on different copies of the chromosome (i.e., are in trans ) rather than on the same copy (i.e. i...

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Literature Corpus work: d6cbc3d6-3432-57f0-be85-b95336812e2d
DOI: 10.1101/2023.03.19.533370

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