Stacey Donnelly
Overview
Explore the profile of Stacey Donnelly including associated specialties, affiliations and a list of published articles.
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10
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10340
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Recent Articles
1.
Amit I, Ardlie K, Arzuaga F, Awandare G, Bader G, Bernier A, et al.
Nat Commun
. 2024 Nov;
15(1):10019.
PMID: 39567491
The Human Cell Atlas (HCA) is a global partnership "to create comprehensive reference maps of all human cells-the fundamental units of life - as a basis for both understanding human...
2.
Chen S, Francioli L, Goodrich J, Collins R, Kanai M, Wang Q, et al.
Nature
. 2024 Jan;
626(7997):E1.
PMID: 38225470
No abstract available.
3.
Chen S, Francioli L, Goodrich J, Collins R, Kanai M, Wang Q, et al.
Nature
. 2023 Dec;
625(7993):92-100.
PMID: 38057664
The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders, but attempts to assess constraint for non-protein-coding regions...
4.
Cabili M, Lawson J, Saltzman A, Rushton G, ORourke P, Wilbanks J, et al.
Cell Genom
. 2023 Feb;
1(2):100031.
PMID: 36778584
The current paradigm for data use oversight of biomedical datasets is onerous, extending the timescale and resources needed to obtain access for secondary analyses, thus hindering scientific discovery. For a...
5.
Lawson J, Cabili M, Kerry G, Boughtwood T, Thorogood A, Alper P, et al.
Cell Genom
. 2021 Nov;
1(2):None.
PMID: 34820659
Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants. Thus, care must be...
6.
Gudmundsson S, Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, et al.
Nature
. 2021 Aug;
597(7874):E3-E4.
PMID: 34373650
No abstract available.
7.
Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, Wang Q, et al.
Nature
. 2021 Feb;
590(7846):E53.
PMID: 33536625
No abstract available.
8.
Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, Wang Q, et al.
Nature
. 2020 May;
581(7809):434-443.
PMID: 32461654
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will...
9.
Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T, et al.
Nature
. 2016 Aug;
536(7616):285-91.
PMID: 27535533
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome...
10.