Detalhe da pesquisa
1.
PEDIA: prioritization of exome data by image analysis.
Genet Med;
21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31164752
2.
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.
Bioinformatics;
33(1): 72-78, 2017 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27565584
3.
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
J Inherit Metab Dis;
41(3): 533-539, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29623569
4.
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.
Bioinformatics;
31(22): 3577-83, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26249812
5.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv;
2024 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37503210
6.
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
Bioinformatics;
28(19): 2515-6, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22826540
7.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet;
54(3): 349-357, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35145301
8.
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
NAR Genom Bioinform;
3(3): lqab078, 2021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34514393
9.
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
PLoS One;
8(8): e70151, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23940540
10.
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.
Genome Med;
5(7): 69, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23902830
11.
An extended bioreaction database that significantly improves reconstruction and analysis of genome-scale metabolic networks.
Integr Biol (Camb);
3(11): 1071-86, 2011 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21952610