whole exome sequencing

6 min read 2021-12-30 04:48:59

2021 – Precision Medicine linked with Genomic Medicine: A Work in Progress

2021 – A true testimony that we sit at the intersection of significant new opportunities The significant opportunities at the intersection of

1 min read 2021-11-24 05:08:37

One of October’s headlines in the field of genomics and genetics included the acquisition of BioDiscovery by Bionano Genomics. I spoke with

1 min read 2021-10-26 18:38:38

A massive effort using exome sequencing data from more than 450,000 UK Biobank participants has revealed rare and common gene variants linked to

1 min read 2021-06-23 23:31:00

June 23, 2021 HiFi Sequencing will be used on a cohort of rare disease cases with the aim to identify numerous variants, both small and structural,

1 min read 2021-05-14 04:45:56

New, critical, investigative, and qualitative report analyzes the observations and learnings across the complex components of biomedical data

5 min read 2021-02-18 05:25:39

New, qualitive report provides an in-depth analysis across the complex, multi-step clinical genomics data process, including genomic data generation

1 min read 2021-01-27 23:05:24

I am pleased to share with you the official release of my updated eBook, “Precision Medicine“. Almost 2,500 years ago, Hippocrates captured one

3 min read 2020-12-10 19:00:00

An analysis of genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability has identified 98 genes with

2 min read 2020-11-02 07:00:00

The first genetic analysis to include multiple types of variants from people with autism or other neurodevelopmental conditions has revealed hundreds

5 min read 2020-10-30 12:45:00

Spectrum is covering the 2020 American Society of Human Genetics conference, which is taking place virtually because of the coronavirus pandemic.

3 min read 2020-09-16 19:00:34

Scientists led by the Mayo Clinic and the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, say they have identified

3 min read 2020-09-10 18:00:00

Lowered expression of a gene called DDHD2 may increase a person’s likelihood of autism, according to a new analysis1. The researchers arrived at

3 min read 2020-08-03 18:00:00

Mutations to the chromosomal region 16p11.2 affect people in different ways, often leading to some combination of autism, intellectual disability and

3 min read 2020-06-24 18:00:00

A trove of DNA sequences from 141,456 people — and counting — offers researchers an unparalleled look at genetic variation across the general

3 min read 2020-04-15 20:00:24

Mutations in a gene called ATP10B may increase the risk of developing Parkinson’s disease, a study has found. When mutated, ATP10B is no longer