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Karczewski, Konrad J.
314  results:
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1

A harmonized public resource of deeply sequenced diverse hu..:

Koenig, Zan ; Yohannes, Mary T. ; Nkambule, Lethukuthula L....
Genome Research.  , 2024
Link: https://doi.org/10.1101/..
 
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2

Author Correction: Nuclear genetic control of mtDNA copy nu..:

Gupta, Rahul ; Kanai, Masahiro ; Durham, Timothy J....
Nature.  630 (2024)  8017 - p. E10-E10 , 2024
Link: https://doi.org/10.1038/..
 
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3

O43: Analysis of >800,000 diverse sequenced humans in gnomA..:

Rehm, Heidi ; Goodrich, Julia ; Chao, Katherine...
Genetics in Medicine Open.  2 (2024)  - p. 101475 , 2024
Link: https://doi.org/10.1016/..
 
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4

Principled distillation of UK Biobank phenotype data reveal..:

Carey, Caitlin E. ; Shafee, Rebecca ; Wedow, Robbee...
Nature Human Behaviour.  , 2024
Link: https://doi.org/10.1038/..
 
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5

The evolutionary impact of childhood cancer on the human ge..:

Stoltze, Ulrik Kristoffer ; Foss-Skiftesvik, Jon ; Hansen, Thomas van Overeem...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Author Correction: GATK-gCNV enables the discovery of rare ..:

Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K....
Nature Genetics.  56 (2024)  3 - p. 553-553 , 2024
Link: https://doi.org/10.1038/..
 
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7

O11: An atlas of 1.2M structural variants across global pop..:

Brand, Harrison ; Zhao, Xuefang ; Fu, Jack...
Genetics in Medicine Open.  2 (2024)  - p. 101015 , 2024
Link: https://doi.org/10.1016/..
 
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8

Polygenic architecture of rare coding variation across 394,..:

Weiner, Daniel J. ; Nadig, Ajay ; Jagadeesh, Karthik A....
Nature.  614 (2023)  7948 - p. 492-499 , 2023
Link: https://doi.org/10.1038/..
 
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9

Discordant calls across genotype discovery approaches eluci..:

Atkinson, Elizabeth G. ; Artomov, Mykyta ; Loboda, Alexander A....
Genome Research.  33 (2023)  6 - p. 999-1005 , 2023
Link: https://doi.org/10.1101/..
 
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10

CHARR efficiently estimates contamination from DNA sequenci..:

Lu, Wenhan ; Gauthier, Laura D. ; Poterba, Timothy...
The American Journal of Human Genetics.  110 (2023)  12 - p. 2068-2076 , 2023
Link: https://doi.org/10.1016/..
 
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11

Parallel Processing and Applied Mathematics: 14th Internati.. 

Lecture Notes in Computer Science, 13827
Wyrzykowski, Roman ; Dongarra, Jack ; Deelman, Ewa. - 1st ed. 2023 . , 2023
Link: https://doi.org/10.1007/..
 
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12

GATK-gCNV enables the discovery of rare copy number variant..:

Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K....
Nature Genetics.  55 (2023)  9 - p. 1589-1597 , 2023
Link: https://doi.org/10.1038/..
 
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13

LoFTK: a framework for fully automated calculation of predi..:

Alasiri, Abdulrahman ; Karczewski, Konrad J. ; Cole, Brian...
BioData Mining.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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14

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1496-1508 , 2023
Link: https://doi.org/10.1016/..
 
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15

P559: Improved classification framework demonstrates many p..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
Genetics in Medicine Open.  1 (2023)  1 - p. 100606 , 2023
Link: https://doi.org/10.1016/..
 
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