PPT-Compound Heterozygous (CH) Variants

What is a CH Variant Child has a recessive allele from each parent with the variant located at a different position within the same gene How is nucleotide inheritance determined laboratorybased. Genotype . vs. Phenotype. Genotype: An organism’s genetic makeup which consists of the alleles that an organism inherits from it’s parents (ex: . Ee. ,. EE, or . ee. ). Phenotype: The physical appearance of an organism’s genotype.. genes. , organized into chromosomes, which determine what the animal . looks like . and what it . can do. .. In . RoboRiot. each robot has one gene with two “. alleles”. . Each robot contributes one . Do Now: List two characteristics of yourself that people say you got from your mother and two characteristics that you got from your father. . Reminder: Turn in Homework. today . For . Extra Credit . Heredity. Chpt. . 12. Recall Simple Types of Heredity. Recessive .  Recall, must have both recessive alleles (. aa. ) to have a recessive trait. . Autosomal. (Complete) Dominance .  Recall, only 1 allele needed to have a dominant trait (AA or . Base Color. Bos. Taurus. Genetics. Phenotype. – describes the physical appearance of a specific genetic trait or characteristic. Genotype. – the genetic code consisting of a pair of alleles that describes a inheritable characteristic or trait . Cattle. Horns. Bos. Taurus. Genetics. Phenotype. – describes the physical appearance of a specific genetic trait or characteristic. Genotype. – the genetic code consisting of a pair of alleles that describes a inheritable characteristic or trait . Ankit Mehta. 1. , Tyson R . Finlinson. 1. , Bradley . Ritland. 1. , Lisa H . Lowe. 1,2. , Kay L . North. 1,2. 1. UMKC School of Medicine, . Kansas City, MO . 2. Children’s . Mercy Hospitals and Clinics, Kansas City, MO. Karchin Lab. Department of Biomedical Engineering. Institute of Computational Medicine. Johns Hopkins University. SSID: . ASHGWORKSHOP. WiFi. Password. : . ASHGWORKSHOP. Select the SSID: . ASHGWORKSHOP. ).. TT _____ Bb _____ DD _____ . Ff. _____ . tt. _____ . dd. . _____. Dd. _____ . ff. _____ Tt _____ bb _____ BB _____ FF _____. STATION 2. Determine the phenotype for each genotype . using . the information provided about SpongeBob.. Samples and Techniques. A distinguishing characteristic that can be inherited is a(n). trait. Mendel knew that the variations in the offspring generations resulted from his experiments because he. Controlled the fertilization . Sarah . Brnich. , Gloria T. Haskell, . Daniel . Marchuk. and Jonathan S. Berg. . . Department . of Genetics, UNC-Chapel . Hill. INTRODUCTION. METHODS. We used . whole exome . sequencing (WES) . Sample & Methods. . 100 index cases (IC): 87 adults and 13 children; 8 were severe forms. . Identifies variants were traced in 36 relatives. NGS panel: LDLR, APOB, PCSK9, LDLRAP1 and APOE . (. heritability. (“GWAS and heritability”). peter.visscher@uq.edu.au. 1. The original definition of ‘missing heritability’. NB both are estimates that can be biased (up or down).  . 2. My 2009 presentation. 11% of the edited variants were insertions and 4% were deletions.. RESULTS. Chromosome 29 was used to compare 1000 Bull Genomes Project run7 to local AGIL data.. 1000 Bull Genomes Project run 7 identified 149,684 variants on chromosome 29.