Orit Levi

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So far Orit Levi has created 34 blog entries.

Breaking Genes December 5th 2019

2019-12-05T14:04:29+00:00

DECEMBER 5TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Newborn Genetic Testing Phenotype-based selection of critically ill neonates increases the likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, resulting in faster and more accurate diagnosis while reducing [...]

Breaking Genes December 5th 20192019-12-05T14:04:29+00:00

Breaking Genes November 21st 2019

2019-11-21T12:50:00+00:00

NOVEMBER 21ST, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The Reviews There were two reviews this week that we particularly liked. Structural variation The challenges in the detection and interpretation of SVs. New approaches, such as ensemble algorithms, and single-molecule [...]

Breaking Genes November 21st 20192019-11-21T12:50:00+00:00

Breaking Genes November 7th 2019

2019-11-07T15:11:30+00:00

NOVEMBER 7TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. New ACMG guidelines for CNVs They’re here, the new ACMG & ClinGen guidelines for interpretation & reporting of constitutional CNVs we’ve all been waiting for. The new guidelines introduce a scoring [...]

Breaking Genes November 7th 20192019-11-07T15:11:30+00:00

Breaking Genes October 24th 2019

2019-10-24T15:03:44+00:00

OCTOBER 24TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. The Other Structural Variations: UPD & Retrotransposition Prevalence of uniparental disomy in general population: UPD is twice as common as previously thought. Study identifies 675 instances of UPD across 23andMe & [...]

Breaking Genes October 24th 20192019-10-24T15:03:44+00:00

What are top genes and diseases presented at ASHG 2019?
We text mined all 3364 posters to find out.

2019-10-18T09:37:31+00:00

We ran all 3364 posters presented at ASHG 2019 through our Natural Language Processing (NLP) engine to gain insights into this year's research trends. Here we're sharing some of our findings on the genes and diseases in the research.Top GenesThe usual suspects hit the top of the most researched genes list, BRCA1, BRCA2, TP53 and [...]

What are top genes and diseases presented at ASHG 2019?
We text mined all 3364 posters to find out.
2019-10-18T09:37:31+00:00

Our new algorithm tells you whether your case can be solved

2019-10-11T13:55:28+00:00

We’re extremely happy to announce Pathorolo, the first machine learning algorithm developed to assess the likelihood of solving a genomics clinical case with currently available information.WhatPathorolo scores each case, and the score is associated with a probability of solving the case. The probability is based on case features and on our automatic analysis results, which [...]

Our new algorithm tells you whether your case can be solved2019-10-11T13:55:28+00:00

Breaking Genes October 3rd 2019

2019-10-03T11:04:53+00:00

OCTOBER 3RD, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. CCR5-Δ32 FLet’s get the latest hot news out of the way. A technical artifact resulted in deviation from the Hardy-Weinberg Equilibrium (HWE), negating previous findings associating CCR5-Δ32 with increased mortality. bioRxiv [...]

Breaking Genes October 3rd 20192019-10-03T11:04:53+00:00

Breaking Genes September 19th 2019

2019-09-19T17:01:35+00:00

SEPTEMBER 19TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Fast & Furious Discovery Fast and furious Mendelian gene discovery with no end in sight? That’s a title that gets us excited. Let’s start with the facts, by 2018, CMGs (Centers [...]

Breaking Genes September 19th 20192019-09-19T17:01:35+00:00

Breaking Genes September 5th 2019

2019-09-05T18:39:56+00:00

SEPTEMBER 5TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Should we CNV? Researchers map the landscape of CNV burden & associations w/ 3000+ phenotypes in the UK Biobank. AJHG Targeted NGS of 500 IRD patients reveals that copy-number variations account [...]

Breaking Genes September 5th 20192019-09-05T18:39:56+00:00

Breaking Genes August 15th 2019

2019-09-05T17:41:04+00:00

AUGUST 15TH, 2019 The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division. Welcome to Breaking Genes, the high impact factor edition. Although we were going to take a summer publishing hiatus in August, genetics showed up in force in the big medical journals. [...]

Breaking Genes August 15th 20192019-09-05T17:41:04+00:00