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Babies’ Genomes Identify Risks Overlooked by Newborn Screens
Babies’ Genomes Identify Risks Overlooked by Newborn Screens
A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.
Babies’ Genomes Identify Risks Overlooked by Newborn Screens
Babies’ Genomes Identify Risks Overlooked by Newborn Screens

A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.

A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.

exome sequencing
Genome, Exome, RNA Sequencing Applied to Pediatric Cancer Cases
Ashley Yeager | Oct 18, 2018 | 2 min read
Combining data from the genetic testing techniques can guide patient care, scientists say.
Understanding What Makes a Successful Crowdfunding Campaign
Jim Daley | May 1, 2018 | 4 min read
Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018 | 10+ min read
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Mutations Linked to Secondary Cancers
Jef Akst | Apr 4, 2017 | 2 min read
Childhood cancer survivors with mutations in certain cancer-risk genes have a higher risk of developing additional neoplasms later in life, according to research presented at the American Association for Cancer Research annual meeting.
Should Healthy People Have Their Exomes Sequenced?
Ruth Williams | Mar 24, 2017 | 4 min read
With its announced launch of a whole-exome sequencing service for apparently healthy individuals, Ambry Genetics is the latest company to enter this growing market. But whether these services are useful for most people remains up for debate.  
The Genetics of Human Height
Jef Akst | Feb 2, 2017 | 2 min read
Researchers can now explain more than a quarter of the variability in human stature.
Exome Study Reveals Novel Disease-Linked Alleles
Anna Azvolinsky | Dec 22, 2016 | 4 min read
By combining whole-exome sequencing data with longitudinal electronic health record information for 50,000 individuals, researchers have identified novel disease associations.
Q&A: Sequencing Newborns
Tracy Vence | Oct 21, 2016 | 2 min read
Members of the BabySeq Project discuss trial enrollment, preliminary findings.
Exome Dataset Expands to Whole Genome
Tracy Vence | Oct 19, 2016 | 1 min read
Members of the Exome Aggregation Consortium launch the Genome Aggregation Database.
Largest Human Genetic Variation Repository Yet
Anna Azvolinsky | Aug 17, 2016 | 4 min read
An open-access catalog of tens of thousands of human exome sequences highlights the power of a very large genomic dataset in pinpointing genes linked to rare diseases. 
Additional #IceBucketChallenge Payoffs
Jef Akst | Jul 28, 2016 | 2 min read
Researchers identify a new ALS-associated gene thanks to funds generated by the social media challenge that went viral in summer 2014.
The Genetic Components of Rare Diseases
Kelly Rae Chi | Jul 1, 2016 | 9 min read
Techniques for determining which genes or genetic variants are truly detrimental
Human Exomes Galore
Karen Zusi | Nov 16, 2015 | 2 min read
A new database includes complete sequences of protein-coding DNA from 60,706 individuals.
Illumina, Investors Launch Consumer Genetics Firm
Tracy Vence | Aug 19, 2015 | 1 min read
With $100 million in initial funding, Helix aims to make personal genomics accessible.
Exomes in the Clinic
Tracy Vence | Oct 21, 2014 | 1 min read
Two teams report molecular diagnosis rates of 25 percent sequencing separate sets of patients with undiagnosed, suspected genetic conditions.
Clinical ’Omes
Rina Shaikh-Lesko | Jun 20, 2014 | 1 min read
Report provides primer on using clinical genome and exome sequencing technologies.
Week in Review: May 19–23
Tracy Vence | May 23, 2014 | 3 min read
Sperm-sex–sensing sows; blocking a pain receptor extends lifespan in mice; stop codons can code for amino acids; exploring the tumor exome
Making Sense of the Tumor Exome
Kerry Grens | May 18, 2014 | 3 min read
An algorithm can pick out biologically and clinically meaningful variants from whole-exome sequences of tumors.
Genetic Brain Disorder Explained
Rina Shaikh-Lesko | Apr 25, 2014 | 2 min read
Researchers uncover a mutation responsible for a rare neurological condition.
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