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Findlay et al., 2018 - Google Patents

Accurate classification of BRCA1 variants with saturation genome editing

Findlay et al., 2018

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Document ID
15382169455142405673
Author
Findlay G
Daza R
Martin B
Zhang M
Leith A
Gasperini M
Janizek J
Huang X
Starita L
Shendure J
Publication year
Publication venue
Nature

External Links

Snippet

Variants of uncertain significance fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which germline loss-of-function variants predispose women to breast and ovarian cancer. Although …
Continue reading at pmc.ncbi.nlm.nih.gov (PDF) (other versions)

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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • C12Q1/6876—Hybridisation probes
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    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
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    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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