| Project Title: | REVEALING SOMATIC GENOME ALTERATIONS AND THEIR CLINICAL SEQUELAE: ULTRASENSITIVE COMPUTATIONAL DETECTION OF MOSAIC STRUCTURAL VARIANTS |
|---|---|
| PI: | Loh, Po-Ru |
| Institution: | Brigham And Women'S Hospital |
| Grant Number: | DP2ES030554 |
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| Publication Title | Authors | Grant Number(s) | Journal (Pub date) | PubMed Link | Pub Year |
|---|---|---|---|---|---|
| A saturated map of common genetic variants associated with human height. | Yengo, Loïc; Vedantam, Sailaja; Marouli, Eirini; Sidorenko, Julia; Bartell, Eric; Sakaue, Saor ... | DP2ES030554, P30ES010126 | Nature (2022 Oct) |
36224396
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2022 |
| A spectrum of recessiveness among Mendelian disease variants in UK Biobank. | Barton, Alison R; Hujoel, Margaux L A; Mukamel, Ronen E; Sherman, Maxwell A; Loh, Po-Ru | DP2ES030554 | Am J Hum Genet (2022 Jul 07) |
35649421
|
2022 |
| Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fr ... | Genovese, Giulio; Mello, Curtis J; Loh, Po-Ru; Handsaker, Robert E; Kashin, Seva; Whelan, Chri ... | DP2ES030554 | Sci Rep (2022 Jul 14) |
35835769
|
2022 |
| Genome-wide mapping of somatic mutation rates uncovers drivers of cancer. | Sherman, Maxwell A; Yaari, Adam U; Priebe, Oliver; Dietlein, Felix; Loh, Po-Ru; Berger, Bonnie | DP2ES030554 | Nat Biotechnol (2022 Nov) |
35726091
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2022 |
| Influences of rare copy-number variation on human complex traits. | Hujoel, Margaux L A; Sherman, Maxwell A; Barton, Alison R; Mukamel, Ronen E; Sankaran, Vijay G; ... | DP2ES030554 | Cell (2022 Oct 27) |
36306736
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2022 |
| GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. | Zhao, Yajie; Stankovic, Stasa; Koprulu, Mine; Wheeler, Eleanor; Day, Felix R; Lango Allen, Han ... | DP2ES030554 | Nat Commun (2021 07 07) |
34234147
|
2021 |
| Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. | Zekavat, Seyedeh M; Lin, Shu-Hong; Bick, Alexander G; Liu, Aoxing; Paruchuri, Kaavya; Wang, Ch ... | DP2ES030554 | Nat Med (2021 06) |
34099924
|
2021 |
| Large mosaic copy number variations confer autism risk. | Sherman, Maxwell A; Rodin, Rachel E; Genovese, Giulio; Dias, Caroline; Barton, Alison R; Mukame ... | DP2ES030554 | Nat Neurosci (2021 Feb) |
33432194
|
2021 |
| Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. | Mukamel, Ronen E; Handsaker, Robert E; Sherman, Maxwell A; Barton, Alison R; Zheng, Yiming; McC ... | DP2ES030554 | Science (2021 Sep 24) |
34554798
|
2021 |
| Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping ana ... | Barton, Alison R; Sherman, Maxwell A; Mukamel, Ronen E; Loh, Po-Ru | DP2ES030554 | Nat Genet (2021 08) |
34226706
|
2021 |
| Chromosomal alterations among age-related haematopoietic clones in Japan. | Terao, Chikashi; Suzuki, Akari; Momozawa, Yukihide; Akiyama, Masato; Ishigaki, Kazuyoshi; Yamam ... | DP2ES030554 | Nature (2020 08) |
32581364
|
2020 |
| Genetically predicted telomere length is associated with clonal somatic copy number alterations in p ... | Brown, Derek W; Lin, Shu-Hong; Loh, Po-Ru; Chanock, Stephen J; Savage, Sharon A; Machiela, Mit ... | DP2ES030554 | PLoS Genet (2020 10) |
33090998
|
2020 |
| Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals withou ... | Zekavat, Seyedeh M; Lin, Shu-Hong; Bick, Alexander G; Liu, Aoxing; Paruchuri, Kaavya; Uddin, M ... | DP2ES030554 | medRxiv (2020 Nov 16) |
33236019
|
2020 |
| Monogenic and polygenic inheritance become instruments for clonal selection. | Loh, Po-Ru; Genovese, Giulio; McCarroll, Steven A | DP2ES030554 | Nature (2020 08) |
32581363
|
2020 |
| Genetic predisposition to mosaic Y chromosome loss in blood. | Thompson, Deborah J; Genovese, Giulio; Halvardson, Jonatan; Ulirsch, Jacob C; Wright, Daniel J; ... | DP2ES030554 | Nature (2019 11) |
31748747
|
2019 |
| GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. | Terao, Chikashi; Momozawa, Yukihide; Ishigaki, Kazuyoshi; Kawakami, Eiryo; Akiyama, Masato; Loh ... | DP2ES030554 | Nat Commun (2019 10 17) |
31624269
|
2019 |