E-LIB Suche - Ergebnisse für: Rehm, Heidi L.

1

The landscape of tolerated genetic variation in humans and ..:

Gao, Hong ; Hamp, Tobias ; Ede, Jeffrey...
bioRxiv -- 2766415-6 -- https://www.biorxiv.org -- http://www.bibliothek.uni-regensburg.de/dbinfo/frontdoor.php?titel_id=12636. , 2023

Link: https://doi.org/10.1101/..

2

FAVOR: functional annotation of variants online resource an..:

Zhou, Hufeng ; Arapoglou, Theodore ; Li, Xihao...
10.1093/nar/gkac966. , 2023

Link: https://hdl.handle.net/1..

3

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029069/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Development and application of a computable genotype model ..:

Goar, Wesley ; Babb, Lawrence ; Chamala, Srikar...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782714/. , 2023

Link: http://www.ncbi.nlm.nih...

5

A Pooled Electronic Consultation Program to Improve Access ..:

Folkerts, Emma K ; Pelletier, Renée C ; Chung, Daniel C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934799/. , 2023

Link: http://www.ncbi.nlm.nih...

6

Accessing clinical-grade genomic classification data throug..:

Dalton, Karen P ; Rehm, Heidi L ; Wright, Matt W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114895/. , 2023

Link: http://www.ncbi.nlm.nih...

7

Inferring compound heterozygosity from large-scale exome se..:

Guo, Michael H ; Francioli, Laurent C ; Stenton, Sarah L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055215/. , 2023

Link: http://www.ncbi.nlm.nih...

8

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L ; O'Leary, Melanie ; Lemire, Gabrielle...
http://medrxiv.org/lookup/doi/10.1101/2023.08.02.23293212. , 2023

Link: http://hdl.handle.net/10..

9

Discordant calls across genotype discovery approaches eluci..:

Atkinson, Elizabeth G ; Artomov, Mykyta ; Loboda, Alexander A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519400/. , 2023

Link: http://www.ncbi.nlm.nih...

10

Exome copy number variant detection, analysis and classific..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593084/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Transcriptome and Genome Analysis Uncovers a DMD Structural..:

Folland, Chiara ; Ganesh, Vijay ; Weisburd, Ben...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117699/. , 2023

Link: http://www.ncbi.nlm.nih...

12

JAK inhibition in a patient with a STAT1 gain-of-function v..:

Rosenberg, Jacob M ; Peters, Joshua M ; Hughes, Travis...
10.1016/J.MEDJ.2021.12.003. , 2023

Link: https://hdl.handle.net/1..

13

Aligning NIH's existing data use restrictions to the GA4GH ..:

Lawson, Jonathan ; Ghanaim, Elena M ; Baek, Jinyoung..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504671/. , 2023

Link: http://www.ncbi.nlm.nih...

14

A panel-agnostic strategy 'HIPPo' improves diagnostic effic..:

Seaby, Eleanor G ; Simon Thomas, N ; Hunt, David...
https://eprints.soton.ac.uk/485707/1/healthcare_2730148_EGS_clean.docx. , 2023

Link: https://eprints.soton.ac..

15

Rare penetrant mutations confer severe risk of common disea..:

Fiziev, Petko ; McRae, Jeremy ; Ulirsch, Jacob C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187340/. , 2023

Link: http://www.ncbi.nlm.nih...