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Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761.
N Engl J Med. 2024.
PMID: 38838312
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.
Pedersen BS, Bhetariya PJ, Brown J, Kravitz SN, Marth G, Jensen RL, Bronner MP, Underhill HR, Quinlan AR.
Pedersen BS, et al.
Genome Med. 2020 Jul 14;12(1):62. doi: 10.1186/s13073-020-00761-2.
Genome Med. 2020.
PMID: 32664994
Free PMC article.
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A map of constrained coding regions in the human genome.
Havrilla JM, Pedersen BS, Layer RM, Quinlan AR.
Havrilla JM, et al.
Nat Genet. 2019 Jan;51(1):88-95. doi: 10.1038/s41588-018-0294-6. Epub 2018 Dec 10.
Nat Genet. 2019.
PMID: 30531870
Free PMC article.
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